| Scapuloperoneal myopathy, myh7-related |
|
Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities |
OMIM:181430 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
| Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... |
OMIM:605820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
| Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... |
ORPHA:457050 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Flared iliac wing, Midface retrusion, Short neck, Delayed skeletal maturatio... |
OMIM:300232 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Rudimentary to absent tibiae, Oro... |
ORPHA:958 |
| Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... |
OMIM:601846 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Widely p... |
OMIM:228520 |
| 3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Midface retrusion, Everted lower lip... |
ORPHA:2616 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Cleft upper lip, Joint dislocation, Flex... |
OMIM:312150 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... |
OMIM:160150 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
| Three M Syndrome 1 |
|
Short 5th finger, Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Delayed sk... |
OMIM:273750 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... |
OMIM:608358 |
| Dysosteosclerosis |
|
Short diaphyses, Delayed closure of the anterior fontanelle, Optic atrophy, Delayed eruption of t... |
OMIM:224300 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... |
OMIM:253290 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... |
OMIM:618823 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypopl... |
OMIM:269250 |
| Three M Syndrome 2 |
|
Short 5th finger, Delayed eruption of teeth, Short neck, Delayed skeletal maturation, Scapular wi... |
OMIM:612921 |
| Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
| Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Spina bifida, Anal atresia, Abnormal sacrum morphology, Abnormal shoulder morpholog... |
ORPHA:2345 |
| Cleidocranial Dysplasia |
|
Brachycephaly, Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia... |
ORPHA:1452 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... |
OMIM:158600 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic facial bones, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bod... |
OMIM:223800 |
| Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
| Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Plagiocephaly, Slender long bone, Micrognathia, Nonimmune hydrops fetalis, Decrease... |
OMIM:618265 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Abnormality of the elbow, Recurrent fractures, Slender long bone, Micrognathia, L... |
ORPHA:1486 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
| Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtrum, Micrognathia, Acetabula... |
OMIM:616549 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Selective tooth agenesis, Delayed... |
OMIM:305620 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Rhizomelia, Micrognathia, Hip dislocation, Narrow greater sciatic notch, Hypoplastic... |
OMIM:602471 |
| Myopathy With Giant Abnormal Mitochondria |
|
Myopathy, Limb-girdle muscle atrophy |
OMIM:255140 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... |
OMIM:615422 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due t... |
OMIM:259420 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Polyhydramnios, Bell-shaped thorax, Flexion contracture, Diastasis recti, Long phil... |
OMIM:608149 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Minimal subcutaneous fat, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial hea... |
OMIM:182212 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Abnormal autonomic nervous system physiology, Elbow flexion... |
OMIM:601559 |
| Bethlem Myopathy 1 |
|
Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo... |
OMIM:158810 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
| Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria |
|
Hyperlysinemia, Mitochondrial lysine transport defect |
OMIM:238710 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
| Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Polyhydramnios, Hydrops fetalis, Metaphyseal cupping, Abnormal carpal morphology, Sho... |
ORPHA:85166 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Kyphosis, Femoral retroversion, Macroglossia, Death in early adulthood, Scoliosis, Mic... |
ORPHA:79107 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Slender long bone, ... |
OMIM:610758 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, High palate, Abnormal bone ossification, Thin metatarsal cortices, Slender long b... |
ORPHA:2463 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Abnormality of dental morphology, Micrognathia... |
ORPHA:2522 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
| Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:200980 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Kyphosis, Turricephaly, Coronal cran... |
OMIM:616294 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Oral synechia, Clinodactyly of the 5th ... |
ORPHA:1388 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... |
OMIM:181400 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
| Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Diastasis recti, Long philtrum, Cutis laxa, Inguinal hernia, Sh... |
ORPHA:3134 |
| Severe Congenital Nemaline Myopathy |
|
Polyhydramnios, Flexion contracture, Edema of the dorsum of hands, Facial palsy, Abnormal thorax ... |
ORPHA:171430 |
| Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Delayed femoral head os... |
OMIM:607326 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Polyhydramnios, High palate, Centrally nucleated skeletal muscle fibers, Death in i... |
OMIM:300219 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Microdontia, Osteochondritis dissecans, Micrognathia, Camptodact... |
OMIM:224690 |
| Kniest Dysplasia |
|
Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, Delayed patellar ossification... |
ORPHA:485 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... |
OMIM:119600 |
| Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Atlantoaxial dislocation, Flared iliac wing, Hip dislo... |
OMIM:252500 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Midface retrusion, Cervi... |
OMIM:601812 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Polyhydramnios, Flexion contracture, Spinal dysraphism, Coxa valga, Plagiocephaly, T... |
ORPHA:96334 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Plagiocephaly, Wide anterior fontanel, Abnormal meta... |
ORPHA:2021 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Pect... |
OMIM:600920 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Polyhydramnios, Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Midface ret... |
OMIM:151210 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Wide mouth, Rhizomelia, Microgn... |
ORPHA:163966 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Unossified vertebral bodies, Short neck, Beaded ribs, Hypoplastic sacrum, Short t... |
OMIM:200600 |
| Cousin Syndrome |
|
Wrist flexion contracture, Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Humeroradia... |
OMIM:260660 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Anauxetic Dysplasia 3 |
|
Hip subluxation, Plagiocephaly, Midface retrusion, Pectus excavatum, Beaking of vertebral bodies,... |
OMIM:618853 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, M... |
OMIM:108720 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Thanatophoric Dysplasia, Type Ii |
|
Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Brachydactyly, Cloverleaf... |
OMIM:187601 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short neck, Slende... |
ORPHA:75840 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Polyhydramnios, Retrognathia, Prenatal death, High palate, Kyphosis, Micrognath... |
OMIM:618393 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro... |
OMIM:500002 |
| Campomelic Dysplasia |
|
Irregular dentition, Polyhydramnios, Short phalanx of finger, Spinal dysraphism, Thoracic hypopla... |
OMIM:114290 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Decreased muscle mass, Abnormal bone ossification, Short 5th f... |
ORPHA:73230 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Diastasis recti, Long philtrum, Cutis laxa, Coronal craniosynos... |
OMIM:312830 |
| Hallermann-Streiff Syndrome |
|
Brachycephaly, Selective tooth agenesis, Micrognathia, Choreoathetosis, Pectus excavatum, Everted... |
OMIM:234100 |
| Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Short neck, Metaphy... |
OMIM:187600 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Midface retrusion, Micromelia, Short femur, ... |
ORPHA:440354 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Short thorax, High palate, Long philtrum, Cutis laxa, Thick lower lip vermilion, Hip ... |
OMIM:619451 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Radioulnar synostosis, ... |
ORPHA:3268 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, R... |
ORPHA:93333 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
| Turnpenny-Fry Syndrome |
|
Brachycephaly, Polyhydramnios, Tapered finger, Plagiocephaly, Microdontia, Pectus excavatum, Over... |
OMIM:618371 |
| Nemaline Myopathy 5 |
|
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Brachycephaly, Shoulder dislocation, Spatulate thumbs, Hallux valgus, Microdontia, Elbow flexion ... |
OMIM:245600 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Polyhydramnios, Absent or minimally ossified vertebral bodies, Short tibia, Poly... |
ORPHA:1505 |
| Osteogenesis Imperfecta, Type X |
|
Thoracic hypoplasia, Micrognathia, Midface retrusion, Short femur, Fibular bowing, Dentinogenesis... |
OMIM:613848 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility... |
OMIM:602196 |
| Autosomal Dominant Centronuclear Myopathy |
|
Polyhydramnios, Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, ... |
ORPHA:169189 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Pectus excavatum, Orofacial cleft, Hand po... |
ORPHA:1520 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Cervicomedullary schisis, Short neck, Sprengel anomal... |
OMIM:118100 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Narrow pelvis bone, Delayed skeletal maturation, Limited elbow extension, Pseudoepip... |
OMIM:210720 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ... |
OMIM:614091 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Delayed skele... |
OMIM:170390 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... |
ORPHA:536516 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Brachycephaly, Hallux valgus, Toe syndactyly, Midface retrusion, Pectus ... |
ORPHA:1327 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal mit... |
OMIM:618528 |
| Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short ha... |
OMIM:186500 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Increased susceptibility t... |
OMIM:604922 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hyperalaninemia, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of ... |
OMIM:618378 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Cornelia De Lange Syndrome 1 |
|
Brachycephaly, 2-3 toe syndactyly, Optic atrophy, Delayed eruption of teeth, Micrognathia, Elbow ... |
OMIM:122470 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Hallux valgus, Microdontia, Atlantoaxial dislocation, Midface retrusion, Pro... |
OMIM:602535 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Kyphosis, Tongue nodules, Microdontia, Bifid uvula, Supernumerary to... |
OMIM:258850 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... |
ORPHA:97240 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Amyotrophy of ankle musculature, Abnormality of the calf musculature, Weakness of the intrinsic h... |
ORPHA:399081 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy |
OMIM:616471 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Weaver Syndrome |
|
Camptodactyly of finger, Retrognathia, Long philtrum, Deep philtrum, Finger syndactyly, Micrognat... |
ORPHA:3447 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... |
OMIM:618395 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Osteogenesis Imperfecta |
|
Brachycephaly, Flexion contracture, Thoracic hypoplasia, Delayed eruption of teeth, Micrognathia,... |
ORPHA:666 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
ORPHA:266 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Patellar dislocation, Multiple joint contractures, Hallux valgus, Micrognath... |
ORPHA:536471 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... |
ORPHA:93359 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Mic... |
ORPHA:1826 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... |
ORPHA:2790 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Thoracic kyphosis, Fused cervical vertebrae, Hip dysplasia, Micrognathia, Scoliosi... |
ORPHA:530983 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... |
OMIM:311895 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Micrognathia, Midface retrusion, Elbow d... |
ORPHA:628 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Vertebral hypoplasia, Micrognathia, Epiphyseal stippling, 2-5 finger syndact... |
OMIM:308050 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Tibial bowing,... |
OMIM:166210 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, High palate, Hip contracture, Spinal muscular atrophy, Short ribs, Dege... |
ORPHA:1145 |
| Tarp Syndrome |
|
Short sternum, High palate, Optic atrophy, Tongue nodules, Hypoplasia of the radius, Micrognathia... |
OMIM:311900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities |
OMIM:609283 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Distal lower limb m... |
OMIM:619216 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... |
ORPHA:424107 |
| Nestor-Guillermo Progeria Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Micrognathia, Midface retrusion,... |
OMIM:614008 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Short neck, Knee dislocation,... |
OMIM:618000 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Wrist swelling, Camptodactyly of finger, Polyhydramnios, Slender long bone, Micrognathia, Abnorma... |
ORPHA:2774 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Polyhydramnios, Flexion contracture, Nemaline bodies, Cleft palate, Arthr... |
OMIM:256030 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ... |
OMIM:612937 |
| Aminopterin Syndrome Sine Aminopterin |
|
Brachycephaly, High palate, Thoracic scoliosis, Joint contracture of the hand, Micrognathia, Olig... |
OMIM:600325 |
| Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... |
ORPHA:178400 |
| Duchenne And Becker Muscular Dystrophy |
|
Hyperlordosis, Slender long bone, Myopathy, Skeletal muscle atrophy, Scoliosis, Joint stiffness, ... |
ORPHA:262 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Retrognathia, High palate, Kyphosis, Paucity of anterior horn motor neurons, Hip dysplasia, Micro... |
OMIM:611890 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Fixed elbow flexi... |
ORPHA:166016 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Brachycephaly, Hyperextensible skin, Cutis laxa, Hip dislocation, Joint hypermobility, Adducted t... |
OMIM:219150 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Polyhydramnios, Thoracic hypoplasia, Long philtrum, Rhizomelia, Death in infancy, Hypoplasia of t... |
OMIM:602613 |
| Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Thoracic hypoplasia, Microgna... |
OMIM:208150 |
| Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:602771 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... |
ORPHA:93324 |
| Donnai-Barrow Syndrome |
|
Short sternum, Wide anterior fontanel, Diaphragmatic eventration, Midface retrusion, Intestinal m... |
OMIM:222448 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Elevate... |
ORPHA:352470 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Distal shortening of l... |
OMIM:300863 |
| Dystonia, Juvenile-Onset |
|
Cleft upper lip, Achalasia, Femoral retroversion, Oculogyric crisis, Leg dystonia, Kyphoscoliosis... |
OMIM:607371 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... |
ORPHA:598 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Slender long bone, Hip dislocation, Limitation of joint mobility, Spina bifida occulta, Hypoplast... |
ORPHA:2840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Median cleft lip, Short neck, Limb undergrow... |
OMIM:269860 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
| Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... |
OMIM:610915 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Brachycephaly, Mandibular prognathia, Cone-shaped ... |
ORPHA:2511 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... |
ORPHA:2839 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
| Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Joint hypermobility,... |
OMIM:617952 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
| Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Lethal Congenital Contracture Syndrome 5 |
|
Polyhydramnios, Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contr... |
OMIM:615368 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Retrognathia, Brachycephaly, Coxa valga, Wide mouth, Slender long bone, Diastema, Pectus excavatu... |
OMIM:212066 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Brachycephaly, Wide mouth, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia... |
OMIM:615419 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Lack of skin elasticity, Decreased muscle mass, High palate, Long philtrum, Midface retrusion, Jo... |
OMIM:612940 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, High palate, Micrognathia, Nemaline bodies, Scoliosis, Narrow chest, Cleft palate... |
OMIM:615731 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... |
OMIM:611307 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Coffin-Lowry Syndrome |
|
Tapered finger, Optic atrophy, Delayed eruption of teeth, Pectus excavatum, Everted lower lip ver... |
ORPHA:192 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Brachycephaly, Absent thumb, Coxa valga, Patellar dislocation, Micrognat... |
OMIM:274000 |
| Three M Syndrome 3 |
|
Hyperlordosis, Short thorax, Increased vertebral height, Long philtrum, Hip dysplasia, Slender lo... |
OMIM:614205 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Coxa valga, Abnormality of cranial sutures, Increased bone mineral density, Microg... |
ORPHA:163649 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Brachycephaly, Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Micrognathia, Short femu... |
OMIM:616897 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thick upper lip vermilion, Delayed cranial suture closure, Optic atrophy, Minimal subcutaneous fa... |
OMIM:210730 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Advanced ossification of carpal bones, Hip dislocation, Pectus excavatum, Cleft palate, Cervical ... |
OMIM:615349 |
| Momo Syndrome |
|
Short sternum, Dental malocclusion, Brachycephaly, High palate, Long philtrum, Delayed eruption o... |
OMIM:157980 |
| Osteoglophonic Dysplasia |
|
Short phalanx of finger, Midface retrusion, Short neck, Limb undergrowth, Short palm, Pseudoarthr... |
OMIM:166250 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Nemaline bodies, Cervical ... |
OMIM:606842 |
| Legg-Calvé-Perthes Disease |
|
Joint dislocation, Avascular necrosis, Cartilage destruction, Skeletal muscle atrophy, Delayed sk... |
ORPHA:2380 |
| Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Short sternum, Brachycephaly, High palate, Long p... |
ORPHA:2563 |
| Rafiq Syndrome |
|
Flexion contracture, Cutis laxa, Short philtrum, Joint laxity, Clinodactyly of the 5th finger, Jo... |
OMIM:614202 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... |
OMIM:310440 |
| Congenital Myopathy 13 |
|
Brachycephaly, Flexion contracture, High palate, Fatty replacement of skeletal muscle, Micrognath... |
OMIM:255995 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Recurrent fractures, Pseudoarthrosis, Slender long bone, Multiple pren... |
OMIM:619795 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Lower limb mu... |
OMIM:300695 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Brachycephaly, Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Narrow pe... |
ORPHA:95699 |
| Malan Overgrowth Syndrome |
|
Scaphocephaly, High palate, Plagiocephaly, Slender long bone, Accelerated skeletal maturation, Fr... |
ORPHA:420179 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Brachycephaly, Polyhydramnios, Flexion contracture, Hip contracture, Long philtrum, Kyphosis, Nar... |
OMIM:301041 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... |
ORPHA:276435 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles |
OMIM:609452 |
| Whistling Face Syndrome, Recessive Form |
|
Knee flexion contracture, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Ca... |
OMIM:277720 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... |
OMIM:156530 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Thin clavicles, Short foot, Calvarial osteosclerosis,... |
OMIM:244460 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Coxa valga, Dela... |
OMIM:309350 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Dumbbell-shaped long bone, Hypoplastic vertebral bodies, Short neck, Lateral clav... |
ORPHA:3144 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Brachycephaly, Missing ribs, Frontal bossing, Anteriorly placed anus, Co... |
ORPHA:1488 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly, Deep philtrum, Wide mouth, Kyphosis, Micrognathia, Short philtrum, Clinodactyly of... |
OMIM:615834 |
| Pseudodiastrophic Dysplasia |
|
Brachycephaly, Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Camptodactyly, Midfa... |
OMIM:264180 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Frontal bossing, Abnormal pelvic girdle bone morphology, Abnormal palate morph... |
ORPHA:1506 |
| Tarp Syndrome |
|
Short sternum, Hypoplasia of proximal radius, Pierre-Robin sequence, Postaxial polydactyly, Optic... |
ORPHA:2886 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Brachycephaly, Long philtrum, Micrognathia, Midface retrusion, Embryonal rhabdomyo... |
OMIM:257300 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Tracheobronchomalacia, Recurrent fractures, Kyphosis, Short long bone, Hypoplas... |
ORPHA:140 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Grant Syndrome |
|
Brachycephaly, Joint dislocation, Narrow chest, Micrognathia, Abnormal pelvic girdle bone morphol... |
ORPHA:2097 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
| Myopathy, spheroid body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy |
OMIM:182920 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Increased vertebral height, Hallux valgus, Slender long bone, Clinodactyly, Camptodactyly, Short ... |
OMIM:613385 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi... |
OMIM:277590 |
| Marshall-Smith Syndrome |
|
Retrognathia, Increased susceptibility to fractures, Bowing of the long bones, Optic atrophy, Gin... |
ORPHA:561 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, High palate, Diaphragmat... |
OMIM:614399 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Lobulated tongue, Short sternum, Thoracic kyphosis, Bifid uvula, Postaxial f... |
ORPHA:2752 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
| Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Micrognathia, Fused cervical vertebrae, Frontal bossing, Dental crowding, Hemih... |
OMIM:108450 |
| Non-Distal Trisomy 10Q |
|
Brachycephaly, High palate, Micrognathia, Frontal bossing, Everted lower lip vermilion, Pectus ex... |
ORPHA:1695 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... |
OMIM:255160 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Micrognathia, Abnormal optic disc morphology, Hip dislocati... |
ORPHA:508498 |
| Dysostosis, Stanescu Type |
|
Brachycephaly, Increased bone mineral density, Midface retrusion, Pectus excavatum, Short neck, T... |
ORPHA:1798 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Thoracic hypoplasia, Micrognathia, Tooth agene... |
OMIM:618363 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Flexion contracture, Distal lower limb amyotrophy, EMG: myopathic abnormalities, Facial diplegia,... |
OMIM:609284 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Lower limb muscle weakness, Kyphosis, Skeletal muscle atrophy, Scoliosis |
OMIM:611225 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Short phalanx of finger, Micrognathia, Bifid uvula, Pectus excavatum, Ov... |
OMIM:114300 |
| Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Micrognathia, Midface retrusion, Short neck, Limb undergrowth, Lacunar halos... |
OMIM:256050 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle ... |
OMIM:167320 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Gingivitis, Flexion contracture, Hyperextensible skin, Cutis laxa, Atrophic scars, Lipodystrophy,... |
ORPHA:75496 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Polyhydramnios, Hypoplastic iliac wing, Hydrops fetalis, Brachycephaly, Long phi... |
OMIM:200610 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Delayed eruption of teeth, Pectus excavatum, Everted lower lip vermilion... |
ORPHA:915 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Squalene Synthase Deficiency |
|
Knee flexion contracture, 2-3 toe syndactyly, Retrognathia, Slender long bone, Elbow flexion cont... |
OMIM:618156 |
| Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... |
OMIM:619110 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Decreased sk... |
ORPHA:1512 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Retrognathia, Absent thumb, Elbow flexion contracture, Congenital diaphragmatic hernia, Hypoplast... |
OMIM:618022 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Brachycephaly, High palate, Micrognathia, Short philtrum, Brachydactyly,... |
ORPHA:776 |
| Wrinkly Skin Syndrome |
|
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Palmoplantar cutis la... |
OMIM:278250 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... |
OMIM:300580 |
| Periodontal Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Periodontitis, Microdontia, Premature loss of primary teeth, Atrophy of alv... |
ORPHA:75392 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, 2-3 toe syndactyly, Flexion contracture, High palate, Tapered finger, Decreased mo... |
OMIM:218000 |
| Typical Nemaline Myopathy |
|
Polyhydramnios, Limb-girdle muscle weakness, Flexion contracture, Micrognathia, Hip dislocation, ... |
ORPHA:171436 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Thanatophoric Dysplasia |
|
Polyhydramnios, Short thorax, Kyphosis, Narrow chest, Hip dysplasia, Midface retrusion, Micromeli... |
ORPHA:2655 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cleft palate,... |
OMIM:214300 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Contractural Arachnodactyly, Congenital |
|
Brachycephaly, Wrist flexion contracture, Patellar dislocation, Patellar subluxation, Micrognathi... |
OMIM:121050 |
| Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Wi... |
OMIM:113000 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Delayed eruption of teeth, Large iliac wing, Incre... |
ORPHA:2780 |
| Spastic Paraplegia Type 7 |
|
Lower limb muscle weakness, Lower limb pain, Abnormal mitochondrial morphology, Upper limb muscle... |
ORPHA:99013 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Abnormal muscle fiber myotilin, Multiple joint contractures, EMG: myopathic ab... |
ORPHA:98911 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Retrognathia, Polyhydramnios, High palate, Joint hypermobility, Thin ribs |
ORPHA:456328 |
| Pierpont Syndrome |
|
Brachycephaly, Short toe, Widely spaced teeth, Abnormal subcutaneous fat tissue distribution, Sho... |
ORPHA:487825 |
| Man1B1-Cdg |
|
2-3 toe syndactyly, Cutis laxa, Resting tremor, Short philtrum, Eclabion, Clinodactyly of the 5th... |
ORPHA:397941 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Flexion contracture, Optic nerve hypoplasia, Thin ribs |
OMIM:614833 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Polyhydramnios, Brachycephaly, Flexion contracture, Wide anterior fontanel, Short l... |
OMIM:263210 |
| Nemaline Myopathy 7 |
|
Knee flexion contracture, Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
| Congenital Myopathy 16 |
|
Flexion contracture, High palate, Postural tremor, Spinal rigidity, Micrognathia, EMG: myopathic ... |
OMIM:618524 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Polyhydramnios, Flexion... |
OMIM:618414 |
| Fryns Syndrome |
|
Polyhydramnios, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Aplasia of the left... |
OMIM:229850 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Bell-shaped thorax, Flexion contracture, High palate, Kyphosis, Clinodactyly, Dolichocephaly, Sho... |
ORPHA:178148 |
| Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Joint contracture of the hand, Thick lower lip vermilion, Micrognathia, Camptodact... |
OMIM:179613 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Humeroradial synostosis, Micrognathia, Elbow flexion contracture,... |
OMIM:151050 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Flexion contracture, High palate,... |
ORPHA:171439 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Reduced bone mineral density, Hyperextensible skin, Optic atrophy, Slender long bone, Dolichoceph... |
ORPHA:1185 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Micrognathia, Midface retrusion, Pectus excavatum, ... |
OMIM:268310 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| De Barsy Syndrome |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Pectus exca... |
ORPHA:2962 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Craniofacial hyp... |
ORPHA:3068 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Brachycephaly, F... |
OMIM:619127 |
| Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... |
ORPHA:488650 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Lowe... |
OMIM:615290 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... |
ORPHA:596 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short sternum, Retrognathia, High palate, Clinodactyly of the 4th toe, Clinodactyly of the 5th to... |
OMIM:620113 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
High palate, Lumbar scoliosis, Short philtrum, Dolichocephaly, Downturned corners of mouth, Smoot... |
OMIM:617796 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Cervi... |
OMIM:312870 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Kyphosis, Foot dorsiflexor weakness, Scoliosis, Optic disc pallor |
OMIM:617087 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Slender long bone, Intrinsic hand muscle atrophy, Distal lower limb muscle weakness, Hammertoe, H... |
ORPHA:488333 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Midface retrusion, Thickened cortex of long bones, Short neck, Postaxial hand polydactyly, Sclero... |
OMIM:269150 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Myofibrillar myopathy, Flexion contracture, Facial palsy |
OMIM:615348 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:606612 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Long philtrum, Cutis laxa, Wide anterior fontanel, Midface retrusion, Joint hypermob... |
OMIM:219200 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... |
OMIM:255200 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar dislocation, Kyphosis, Hypodonti... |
ORPHA:2916 |
| Short Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Enlarged epiphyses, Hypodontia, Slender long bone... |
OMIM:269880 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida... |
OMIM:169550 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... |
OMIM:610099 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Retrognathia, Limited elbow movement, Joint contracture of the hand, Kyphosis, Hallux valgus, Bra... |
OMIM:300280 |
| Shashi-Pena Syndrome |
|
Retrognathia, Kyphosis, Limb hypertonia, Short metacarpal, Accelerated skeletal maturation, Thin ... |
OMIM:617190 |
| Arterial Tortuosity Syndrome |
|
Flexion contracture, High palate, Long philtrum, Hyperextensible skin, Cutis laxa, Micrognathia, ... |
OMIM:208050 |
| Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Centrally nucleated skeletal muscle fibers, Generalized amyotro... |
OMIM:617258 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Rhizomelia, Narrow chest, Micrognathia, Short philtrum, Frontal bossing, Platybasia,... |
ORPHA:93267 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongue fur... |
ORPHA:313892 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain... |
ORPHA:93284 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Brachycephaly, Coxa valga, Plagiocephaly, Delayed eruption of teeth, Microdontia, ... |
OMIM:135900 |
| Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Cervical kyphosis, Short fin... |
OMIM:222600 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Camptodactyly, Elbow contracture, Pectus excavatum, Dislocated radial head, Cleft pa... |
OMIM:617137 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, Hyperlordosis, High palate, Micrognathia, Short philtrum, Ulnar deviation of finge... |
ORPHA:1387 |
| Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Midface retrusion, Pectus excavatum, Short neck, Abno... |
OMIM:156550 |
| Apert Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Ectopic anus, Delayed eruption of teeth, Humerorad... |
OMIM:101200 |
| Nemaline Myopathy 4 |
|
Flexion contracture, High palate, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bod... |
OMIM:609285 |
| Lateral Meningocele Syndrome |
|
Micrognathia, Syringomyelia, Pectus excavatum, Short neck, Tethered cord, Smooth philtrum, Cleft ... |
OMIM:130720 |
| Mosaic Trisomy 20 |
|
Retrognathia, Vertebral fusion, Kyphosis, Craniofacial asymmetry, Fused cervical vertebrae, Verte... |
ORPHA:1724 |
| Bohring-Opitz Syndrome |
|
Polyhydramnios, Flexion contracture, Tapered finger, Micrognathia, Camptodactyly, Dislocated radi... |
OMIM:605039 |
| 3P25.3 Microdeletion Syndrome |
|
Brachycephaly, Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux... |
ORPHA:435638 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Tapered finger, Atlantoaxial dislocation, Slender finger, Cleft palate, Arthrogryposis multiplex ... |
ORPHA:2953 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... |
OMIM:617114 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
| Wiedemann-Rautenstrauch Syndrome |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Flexion contracture, Delayed eruption ... |
OMIM:264090 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Bifi... |
OMIM:612350 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Abnormal metaphysis morpholo... |
ORPHA:2635 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Wide mouth, Ectopic anus, Narrow chest, Micrognathia, Front... |
ORPHA:1703 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Central Core Disease |
|
Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina... |
ORPHA:597 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 muscle fiber atrophy, L... |
OMIM:603034 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Brachycephaly, Flexion contracture, Plagiocephaly, Optic atrophy, Muscul... |
ORPHA:272 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Micrognathia, Bifid uvula, Elbow dislocation, Delaye... |
ORPHA:2554 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... |
OMIM:254130 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Limb-girdle muscle weakness, Abnormality of connective tissue, Multiple joint contractures, Neuro... |
ORPHA:370968 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
High palate, Wide mouth, Optic atrophy, Slender long bone, Joint hypermobility, Pectus excavatum,... |
OMIM:618590 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Short neck, Limb underg... |
OMIM:263650 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Finger syndactyly, Turricephaly, Micrognathia, Micromelia, Oligohydramnios, Split ... |
ORPHA:2145 |
| Macs Syndrome |
|
Irregular dentition, Recurrent aphthous stomatitis, High palate, Long philtrum, Hyperextensible s... |
OMIM:613075 |
| Parastremmatic Dwarfism |
|
Genu valgum, Flexion contracture, Kyphosis, Short neck, Scoliosis, Bowing of the long bones |
OMIM:168400 |
| Geroderma Osteodysplasticum |
|
Camptodactyly, Beaking of vertebral bodies, Increased susceptibility to fractures, Irregular vert... |
OMIM:231070 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Thoracic hypoplasia, Microdontia, Micrognathia, Bifid uvula, Short neck,... |
OMIM:266920 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... |
OMIM:620068 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Abnormal sacrum morphology, Scoli... |
ORPHA:1436 |
| German Syndrome |
|
Camptodactyly of finger, Brachycephaly, High palate, Lymphedema, Micrognathia, Midface retrusion,... |
ORPHA:2077 |
| Apert Syndrome |
|
Ectopic anus, Delayed eruption of teeth, Optic atrophy, Toe syndactyly, Bifid uvula, Midface retr... |
ORPHA:87 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Retrognathia, Brachycephaly, Flexion contracture, High palate, Long philtrum, Tape... |
OMIM:617452 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number |
OMIM:619063 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Brachycephaly, Long philtrum, Kyphosis, Micrognathia, Thin upper li... |
OMIM:615761 |
| Pierpont Syndrome |
|
Brachycephaly, Short toe, Short foot, Widely spaced teeth, Prominent median palatal raphe, Short ... |
OMIM:602342 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Facial pal... |
OMIM:607323 |
| Alazami Syndrome |
|
Wide mouth, Widely spaced teeth, Slender long bone, Short philtrum, Scoliosis, Malar flattening, ... |
ORPHA:319671 |
| Rigid Spine Syndrome |
|
Hip contracture, Elbow flexion contracture, Myopathy, Skeletal muscle atrophy, Hamstring contract... |
ORPHA:97244 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Flexion contracture, High palate, Lower limb muscle weakness, Hand muscle atrophy, Decreased moto... |
OMIM:607684 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Anauxetic Dysplasia 2 |
|
Flexion contracture, Coxa valga, Midface retrusion, Hypoplastic iliac body, Hypoplasia of the fem... |
OMIM:617396 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... |
OMIM:600175 |
| C Syndrome |
|
Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial head, Radial deviation of finger... |
OMIM:211750 |
| Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Cutis laxa, Cutaneous finger syndactyly, Narrow chest, Hip dysplasia, ... |
OMIM:614378 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com... |
OMIM:500013 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri... |
OMIM:130060 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Cleft soft palate, Micrognathia, Abnormality of the wrist, Irregular acetabular r... |
ORPHA:93316 |
| Monosomy 18P |
|
Brachycephaly, Enlarged thorax, Lymphedema, Hypodontia, Micrognathia, Short philtrum, Pectus exca... |
ORPHA:1598 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... |
OMIM:615220 |
| Carpenter Syndrome 1 |
|
Brachycephaly, Coxa valga, Lateral displacement of patellae, Optic atrophy, Toe syndactyly, Micro... |
OMIM:201000 |
| Ogden Syndrome |
|
Delayed cranial suture closure, Everted upper lip vermilion, Cutis laxa, Torticollis, Microretrog... |
ORPHA:276432 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Microdontia, Micrognathia, Bifid uvula, Hip dislocation, Camptodactyly, Midface r... |
OMIM:613458 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Hallux valgus, Pericardial effusion, Micrognathia, Hip dislocation, Elbow d... |
ORPHA:536532 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Plagio... |
ORPHA:1143 |
| Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Short femur, Abnormal metaphysis morphology, Frontal bossing, Micromelia, Platysp... |
ORPHA:1860 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Ovoid vertebral bodi... |
ORPHA:40 |
| Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia, Slender long bone, Flared metaphysis, Decreased skull ossificati... |
OMIM:602361 |
| Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Humeroradial synostosis, Micrognathia, Prominent occiput, Phocomel... |
ORPHA:3404 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Abnormal mandible morphology, Tapered finger, Prominence... |
ORPHA:2215 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Wid... |
OMIM:135100 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Increased bone mineral density, Bifid uvula, Delayed skeletal mat... |
ORPHA:2658 |
| Alpha-Mannosidosis |
|
Dental malocclusion, Avascular necrosis, Narrow palate, Mandibular prognathia, Kyphosis, Widely s... |
ORPHA:61 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
| Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Pectus carinatum, Long philtrum, Finger joint hypermobility, Prominent median pal... |
ORPHA:363705 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, High, narrow palate, Hypermobility of interphalangeal joints, Dolichocepha... |
ORPHA:3433 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Plagiocephaly, Esophageal atresia, Fused cervical vertebrae, Submucous cleft hard p... |
OMIM:619227 |
| Cornelia De Lange Syndrome 2 |
|
Brachycephaly, High palate, Limited elbow movement, Small hand, Micrognathia, Clinodactyly, Thin ... |
OMIM:300590 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Short thumb, Limitation of joint mobili... |
OMIM:151200 |
| Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Foot joint contracture, Tapered finger, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Narrow mouth, Tongue fasciculations, Facial myokymia, Pectus carinatum |
OMIM:620007 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Mandibular prognathia, Optic atrophy, Craniofacial hyperostosis, Facial diplegia,... |
OMIM:122860 |
| Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, Hyperlordosis, Hip contracture, High palate, Generalized amyotrophy, Centrally nucl... |
ORPHA:169186 |
| Alg8-Cdg |
|
Hydrops fetalis, Optic atrophy, Cutis laxa, Abnormality of subcutaneous fat tissue, Premature ski... |
ORPHA:79325 |
| Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Mandibular prognathia, Abnormal bone ossification, Recurrent fracture... |
ORPHA:2078 |
| Loeys-Dietz Syndrome 5 |
|
Brachycephaly, Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Midface retru... |
OMIM:615582 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polyhydramnios, Polydactyly, Plagiocephaly, Microdontia, Micrognathia, Midface r... |
OMIM:613610 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... |
ORPHA:353327 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Centrally nucleated ... |
OMIM:255310 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Scoliosis, Generalized amyotrophy |
OMIM:616540 |
| Pierre Robin Syndrome |
|
Cleft palate, Micrognathia, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Prominent metopic ridg... |
OMIM:309620 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Retrognathia, Hyperlordosis, Polyhydramnios, High palate, Spinal rigidity, EMG: myopathic abnorma... |
OMIM:161800 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Type 1 muscle fiber predominanc... |
OMIM:619542 |
| Lethal Kniest-Like Dysplasia |
|
Polyhydramnios, Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, M... |
ORPHA:2347 |
| Meier-Gorlin Syndrome 2 |
|
Patellar aplasia, Slender long bone, Micrognathia, Camptodactyly, Dolichocephaly, Joint hypermobi... |
OMIM:613800 |
| Thanatophoric Dysplasia Type 2 |
|
Polyhydramnios, Short thorax, Kyphosis, Micromelia, Limitation of joint mobility, Brachydactyly, ... |
ORPHA:93274 |
| Hyperparathyroidism, Transient Neonatal |
|
Brachycephaly, Polyhydramnios, Recurrent fractures, Short ribs, Short long bone, Short femur, Fem... |
OMIM:618188 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Brachycephaly, Bifid uvula, Pectus excavatum, Short neck, Smooth philtrum, Cleft palate, Recurren... |
OMIM:309583 |
| Classic Multiminicore Myopathy |
|
Mandibular prognathia, High palate, Multiple joint contractures, Muscle fiber atrophy, Generalize... |
ORPHA:324604 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, Myopathy, Increased muscle lipid content, Increased muscle glycogen content, Ragged... |
ORPHA:254864 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Coxa valga, Dela... |
ORPHA:2484 |
| Arthrogryposis, Distal, Type 5D |
|
Hyperlordosis, Decreased muscle mass, Limited elbow movement, Tongue atrophy, Micrognathia, Elbow... |
OMIM:615065 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... |
OMIM:613849 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Stiff neck, High palate, Long philtrum, Narrow pa... |
OMIM:617022 |
| Otopalatodigital Syndrome Type 1 |
|
Thickened calvaria, Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone ... |
ORPHA:90650 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Short femoral neck, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof, ... |
OMIM:617159 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Broad jaw, Optic atrophy, Increased bone mineral density, Thickened calvaria, Cran... |
ORPHA:178377 |
| Wieacker-Wolff Syndrome |
|
Retrognathia, Hyperlordosis, High palate, Long philtrum, Congenital foot contractures, Kyphosis, ... |
OMIM:314580 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Retrognathia, Brachyturricephaly, Coronal craniosynostosis, Fused cervical vertebrae, Pyloric ste... |
ORPHA:83617 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology |
OMIM:300438 |
| Renpenning Syndrome |
|
Mandibular prognathia, Short philtrum, Anal atresia, Clinodactyly of the 5th finger, Abnormal thu... |
ORPHA:3242 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... |
OMIM:271530 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Decreased cervi... |
OMIM:310300 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Butterfly vertebrae, Camptodactyly, Midface retrusion, Short neck, Posterior rib ga... |
OMIM:611209 |
| Hypophosphatasia, Childhood |
|
Premature loss of primary teeth, Dolichocephaly, Frontal bossing, Bowing of the legs, Rachitic ro... |
OMIM:241510 |
| Kbg Syndrome |
|
Vertebral fusion, Long philtrum, Thoracic kyphosis, Oligodontia, Cervical ribs, Thin upper lip ve... |
ORPHA:2332 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Micrognathia, Bifid uvula, Midface retrusion, Short neck... |
ORPHA:1427 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Abnormality... |
ORPHA:3098 |
| Cartilage-Hair Hypoplasia |
|
Brachycephaly, Spinal dysraphism, Abnormal distal phalanx morphology of finger, Short neck, Delay... |
ORPHA:175 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Enlargement of the costochondral junction, Sclero... |
OMIM:609052 |
| Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Thick lower lip vermilion, Slender long bone, Micrognathia, Hypoplasia of the m... |
OMIM:613804 |
| Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Brachycephaly, Long philtrum, Recurrent ... |
ORPHA:83 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Polyhydramnios, Optic atrophy, Death in infancy, Micrognathia, Narrow mouth, Short neck, Thin ver... |
OMIM:618766 |
| Myopathy, Centronuclear, 5 |
|
Weakness of facial musculature, Hip contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Delayed closure of the anterior fontanelle, Decreased muscle mass, High palate, Long philtrum, Ge... |
ORPHA:357074 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
High palate, Micrognathia, Weakness of facial musculature, Scoliosis, Type 2 muscle fiber atrophy... |
OMIM:608930 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long philtrum, Coxa vara, Vertebral segmentation defect, Hip dys... |
ORPHA:1988 |
| Trisomy 20P |
|
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Ectopic anus, Microdontia, Abnormal autono... |
ORPHA:261318 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... |
ORPHA:1801 |
| Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2... |
OMIM:618658 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Cleft palate,... |
OMIM:272460 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Dolichoceph... |
OMIM:271520 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Vertebral segmentation defect, Micrognathia, Abnormal hip bone mor... |
ORPHA:1166 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Broad hallux, Postaxial hand polydactyly, Scaphocephaly, Preaxial... |
OMIM:175700 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Myopathy, Facial palsy |
OMIM:602541 |
| Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
OMIM:619790 |
| Tetrasomy 9P |
|
Micrognathia, Bifid uvula, Myositis, Short neck, Amelogenesis imperfecta, Cleft palate, Abnormal ... |
ORPHA:3310 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Myopathy, Skeletal muscle atroph... |
OMIM:248800 |
| Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Lipoatrophy, Wide anterior fontanel, Cutis laxa, Reduced subcutaneous adip... |
ORPHA:2963 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Vertebral segmentation defect, Micrognathia, Missing ribs, Anal atresia,... |
ORPHA:1834 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Edema, Intrauterine growth retardation, Cleft palate, Arthrogryposis multiplex cong... |
OMIM:616570 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Polyhydramnios, Multiple joint contractures, Microcolon, Micrognathia, S... |
ORPHA:1662 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Increased bone mineral density, Flared ilia... |
ORPHA:90652 |
| Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Camptodactyly, Midface retrusion, Cleft palate, Gingival overgro... |
OMIM:616331 |
| Meier-Gorlin Syndrome 3 |
|
Genu varum, Short thorax, Patellar hypoplasia, Patellar aplasia, Coxa vara, Short ribs, Slender l... |
OMIM:613803 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Brachycephaly, Micrognathia, Caudal interpedicular narrowing, Broad hall... |
ORPHA:439822 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Umbilical hernia, Short thorax, Long philtrum, Kyphosis, Finger syndacty... |
ORPHA:2311 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Cornelia De Lange Syndrome 5 |
|
Retrognathia, Brachycephaly, High palate, Long philtrum, Small hand, Widely spaced teeth, Toe syn... |
OMIM:300882 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Sacral dimple, Retrognathia, Brachycephaly, High palate, Long philtrum, Hyperextensibility of the... |
ORPHA:505237 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Brachycephaly, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eru... |
OMIM:259600 |
| 2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Brachycephaly, Enlarged thorax, Tapered finger, Patellar... |
ORPHA:261349 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Long philtrum, Ulnar deviation of the wrist, Micrognathia, Clinodac... |
OMIM:618577 |
| Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, ... |
OMIM:117650 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617069 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hip subluxation, Short phalanx of finger, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Hip contracture, Tapered finger, Plagiocephaly, Short philtrum, Frontal bossing, T... |
OMIM:616801 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Pectus carinatum, Long philtrum, Turricephaly, Toe syndactyly, Micrognathia, Radio... |
ORPHA:171839 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Facial edema, Facial palsy |
OMIM:155900 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Rhabdomyolysis |
OMIM:615511 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Cle... |
ORPHA:94068 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Protrusio acetabuli, Arachnodactyly, Joint dislocation, Palmoplantar cutis laxa, Hyperextensible ... |
OMIM:225400 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Brachycephaly, Upper limb undergrowth, Long philtrum, Craniosynostosis, Slender long bone, Microg... |
ORPHA:369837 |
| Rin2 Syndrome |
|
Irregular dentition, Increased susceptibility to fractures, Abnormal sternum morphology, Hyperext... |
ORPHA:217335 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart fa... |
ORPHA:2414 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Abnormality of peripheral nerve conduction, Abnormality of the cervical ... |
ORPHA:48431 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Cleft palate, Micrognathia, Redundant skin, Trigonocephaly |
ORPHA:1779 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Hyperextensibility at wrists, Flexion contracture... |
OMIM:254090 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Plagiocephaly, Multiple joint contractures, Hallux valgus, Microdontia, Atlantoaxial dislocation,... |
ORPHA:536467 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrop... |
OMIM:181405 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Mandibular prognathia, Kyphosis, Toe syndactyly, Aplasia/Hypoplasia of fingers... |
ORPHA:3082 |
| Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
| Meier-Gorlin Syndrome 5 |
|
Long philtrum, Patellar aplasia, Slender long bone, Micrognathia, Clinodactyly, Submucous cleft h... |
OMIM:613805 |
| Isolated Pierre Robin Syndrome |
|
Cleft palate, Micrognathia, Glossoptosis |
ORPHA:718 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Deep philtrum, Kyphosis, Micrognathia, Cervical ribs, Incomplete cleft of the uppe... |
ORPHA:77300 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Sacral dimple, Brachycephaly, Finger syndactyly... |
ORPHA:2633 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Hip dislocation, Cutis laxa, Arachnodactyly |
OMIM:614100 |
| Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Short phalanx of finger, Brachycephaly, Micrognathia, Camptodacty... |
OMIM:249420 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Delayed skeletal maturation, Ske... |
OMIM:255800 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... |
ORPHA:66637 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Abnormal sternum morphology, Abnormality of the anus, P... |
ORPHA:96167 |
| Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Short long bone, Flared elbow metaphyses, Micrognathia, Accelerated skeletal matu... |
ORPHA:1423 |
| Achondrogenesis Type 1B |
|
Umbilical hernia, Polyhydramnios, Hydrops fetalis, Short thorax, Abnormal enchondral ossification... |
ORPHA:93298 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Genu valgum, Mandibular prognathia, Tapered finger, Long philtrum, Plagiocephaly, ... |
OMIM:619721 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Micrognathia, Abnormal metacarpal morphology, Pectus excavatum, Cleft palate, Mala... |
ORPHA:166100 |
| Mcdonough Syndrome |
|
Dental malocclusion, Aplasia/Hypoplasia of the abdominal wall musculature, Mandibular prognathia,... |
ORPHA:2471 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dise... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Neck pterygia, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dise... |
ORPHA:99228 |
| Monosomy X |
|
Neck pterygia, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dise... |
ORPHA:99226 |
| Turner Syndrome |
|
Neck pterygia, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dise... |
ORPHA:881 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Unilateral... |
OMIM:173800 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Knee flexion contracture, Upper limb amyotrophy, Tongue atrophy, Kyphoscoliosis, Proximal muscle ... |
ORPHA:496689 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Hyperextensible skin, Hernia, Generalized joint laxity, Atrophic scars, Recurrent sinusitis, Join... |
OMIM:130010 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Plagiocephaly, Ectopic anus, Micrognathia, Delayed... |
ORPHA:85199 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... |
OMIM:154275 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
| Costello Syndrome |
|
Lack of skin elasticity, Polyhydramnios, Narrow palate, Thickened Achilles tendon, Thick lower li... |
ORPHA:3071 |
| C Syndrome |
|
Polyhydramnios, Abnormality of the anus, Toe syndactyly, Micrognathia, Biparietal narrowing, Pect... |
ORPHA:1308 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Long philtrum, Kyphosis, Micrognathia, Generalized limb muscle atrophy, Myopathy, Sc... |
ORPHA:2598 |
| Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... |
ORPHA:2911 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Brachycephaly, Microdontia, Micrognathia, Midface retrusion, Everted lower lip vermilion, Short p... |
OMIM:156200 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Pseudoepiphyses, Long philtrum, Wide mouth, Fused cervical vertebr... |
OMIM:157800 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Flexion contracture, Coxa valga, Micrognathia, Bifid uvula, Midface retrusion, Dislocated radial ... |
OMIM:130070 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Retrognathia, Brachycephaly, High palate, Long philtrum, Joint contracture of the hand, Camptodac... |
OMIM:612513 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Absent thumb, Short 2nd finger, Tapered finger, Tapered toe, Toe syndactyly, Micr... |
OMIM:216340 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Brachycephaly, Finger joint hypermobility, Micrognathia, Metatarsus addu... |
OMIM:212720 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Hallux valgus, Elbow flexion contracture, Clubbing ... |
OMIM:256040 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, High palate, Plagiocephaly, Pectus excavatum, Inguinal hernia, Skeletal muscle atr... |
OMIM:618603 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Short 4th metacarpal, Micrognathia, Camptodactyly, Midface retrusion, Short ... |
OMIM:601390 |
| Warburg Micro Syndrome 3 |
|
Brachycephaly, Ankle clonus, Narrow palate, Flexion contracture, Decreased muscle mass, Optic atr... |
OMIM:614222 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Long philtrum, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Frontal... |
OMIM:301022 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Fatty replacement of skeletal muscle, Congenital muscular dystrophy, Achilles tendon contracture,... |
ORPHA:370980 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Restricted large joint movement, Short long bone, Micrognathia, Delayed o... |
ORPHA:93346 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Micrognathia, Midface retrusion, Dolichocephaly, Posterolateral di... |
OMIM:613177 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Hip dislocation, Butterfly vertebrae, Pseudoepiphyses of hand bones, Short n... |
OMIM:613330 |
| Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Hip dislocation, Limitation of joint mobility, Congenital diaphragmatic hern... |
ORPHA:171719 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Turricephaly, Optic atrophy, Abnormal metacarpal morphology, Abnormal sacrum morph... |
ORPHA:93262 |
| Raine Syndrome |
|
Brachycephaly, Plagiocephaly, Thoracic hypoplasia, Microdontia, Increased bone mineral density, M... |
OMIM:259775 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... |
OMIM:615777 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, Mandibular prognathia, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth... |
ORPHA:369891 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Narrow chest, Accelerated skele... |
ORPHA:1354 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensib... |
OMIM:313420 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, High palate, Irregular vertebral endplates, Rhizomelia, Micrognathia, Epiphy... |
OMIM:222765 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Spi... |
OMIM:300718 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Craniodiaphyseal Dysplasia |
|
Optic atrophy, Craniofacial hyperostosis, Frontal bossing, Abnormal rib morphology, Diaphyseal th... |
ORPHA:1513 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Degeneration of anteri... |
OMIM:301830 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Retrognathia, Brachycephaly, High palate, Long philtrum, Tapered finger, Micrognat... |
OMIM:613792 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Supernumerary ribs, Submucous cleft hard palate, Midface retrusion, Prominent occip... |
OMIM:619122 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... |
OMIM:178110 |
| Alpha-Mannosidosis, Infantile Form |
|
Brachycephaly, Thickened ribs, Hypoplastic inferior ilia, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... |
ORPHA:119 |
| Muenke Syndrome |
|
Brachycephaly, Dental malocclusion, Short middle phalanx of toe, High palate, Plagiocephaly, Capi... |
OMIM:602849 |
| Wrinkly Skin Syndrome |
|
Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Excessive skin wrinkling o... |
ORPHA:2834 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Genu valgum, Joint dislocation, Long philtrum, Deep philtrum, Avascular necrosis of the capital f... |
ORPHA:502 |
| Ritscher-Schinzel Syndrome 1 |
|
Brachycephaly, Micrognathia, Missing ribs, Anal atresia, Prominent occiput, Syndactyly, Cleft pal... |
OMIM:220210 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Kyphosis, Oligodontia, Anodontia, Frontal bossing, Everted lower lip vermilion, P... |
ORPHA:276630 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, High palate, Muscle fiber atrophy, Internally nuc... |
OMIM:618654 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
| Distal Monosomy 10Q |
|
Brachycephaly, Tapered finger, Micrognathia, Hip dislocation, Pectus excavatum, Spina bifida occu... |
ORPHA:96148 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Coffin-Siris Syndrome 6 |
|
Retrognathia, Plagiocephaly, Deep philtrum, Diaphragmatic eventration, Micrognathia, Clinodactyly... |
OMIM:617808 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy |
ORPHA:309169 |
| Mucopolysaccharidosis Type 4 |
|
Coxa valga, Grayish enamel, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Abn... |
ORPHA:582 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal upper limb amyotrophy, Hyperextensible skin, Distal lower limb muscle weakness, Distal low... |
OMIM:619764 |
| Fountain Syndrome |
|
Midface retrusion, Pectus excavatum, Everted lower lip vermilion, Spina bifida occulta, Gingival ... |
ORPHA:3219 |
| Larsen-Like Syndrome |
|
Brachycephaly, Dental malocclusion, Joint dislocation, Wide anterior fontanel, Clinodactyly of th... |
OMIM:608545 |
| 2Q32Q33 Microdeletion Syndrome |
|
Brachycephaly, Arachnodactyly, High palate, Long philtrum, Micrognathia, Oligodontia, Dental crow... |
ORPHA:251019 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognathia, Microglossia, Cle... |
ORPHA:141152 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
High palate, Generalized amyotrophy, Absent brainstem auditory responses, Choreoathetosis, Type 1... |
OMIM:617519 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Polyhydramnios, Flexion contracture, Multiple joint contractures, Kyphosis, Microg... |
OMIM:618291 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
| 19P13.13 Microdeletion Syndrome |
|
Brachycephaly, High palate, Optic atrophy, Clinodactyly, Dolichocephaly, Macroglossia, Syringomye... |
ORPHA:357001 |
| Acrodysostosis |
|
Brachycephaly, Delayed eruption of teeth, Epiphyseal stippling, Midface retrusion, Abnormal form ... |
ORPHA:950 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Increased susceptibility to fractures, Increased variability in muscle fiber diame... |
ORPHA:52430 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Midface retrusion, Overlapping toe, Shor... |
OMIM:139210 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, S... |
OMIM:253000 |
| Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Polyhydramnios, Blepharospasm, Coxa valga, Increase... |
ORPHA:800 |
| Anauxetic Dysplasia 1 |
|
Microdontia, Elbow flexion contracture, Atlantoaxial dislocation, Short neck, Limited elbow exten... |
OMIM:607095 |
| 48,Xxxy Syndrome |
|
Brachycephaly, Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Taurodontia, Hip dis... |
ORPHA:96263 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb |
OMIM:618453 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Recurrent patellar dislocation, Type 1 muscle fiber predominance, Intrinsic hand muscle atrophy, ... |
ORPHA:178145 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Genu valgum, Tapered finger, Macrodontia of permanent maxillary central inci... |
OMIM:616202 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Delayed closure of the anterior fontanelle, Gingival hyperkeratosis, Mic... |
OMIM:225410 |
| Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Camptodactyly, Joint laxity, Kyphoscoliosis, Cleft palate, Triden... |
OMIM:614815 |
| Stickler Syndrome, Type I |
|
Micrognathia, Bifid uvula, Midface retrusion, Pectus excavatum, Beaking of vertebral bodies, Clef... |
OMIM:108300 |
| Xp22.13P22.2 Duplication Syndrome |
|
2-3 toe syndactyly, Mandibular prognathia, High palate, Tapered finger, Small hand, Pectus excava... |
ORPHA:284180 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Knee flexion contracture, Retrognathia, Distal arthrogryposis, Flexion contracture, High palate, ... |
OMIM:617468 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Ulnar deviation of finger, Pectus excavatum, Skeletal muscle atrophy, Delayed skele... |
ORPHA:2013 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Stomatitis, Osteolysis, Joint swelling, Osteopenia, Flar... |
OMIM:612852 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Long philtrum, Abnormal skeletal muscle morphology, Micrognathia, Velopharyngeal insufficiency, H... |
OMIM:619941 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... |
OMIM:154276 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Clinodactyly of the 2nd finger, Brachycephaly, Coxa valga, Short foot, Wide pub... |
OMIM:620073 |
| Gapo Syndrome |
|
Delayed cranial suture closure, Bell-shaped thorax, Eruption failure, Delayed closure of the ante... |
OMIM:230740 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Thin upper lip vermilion, Kyphosis, Pectus excavatum |
OMIM:609384 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Micrognathia, Pyloric stenosis, Choreoathetosis, Hand polydactyly, Abnormal vertebral morphology,... |
ORPHA:261197 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed cranial suture closure, Short phalanx of finger, Flexion contracture, High palate, Acroos... |
OMIM:608612 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, 2-3 toe syndactyly, Brachycephaly, Skull asymmetry, Smooth philtrum, Cleft pa... |
OMIM:614701 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... |
OMIM:171480 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Retrognathia, Mesomelic leg shortening, Micrognathia, Bowing of the legs... |
OMIM:249710 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Flexion contracture, Internally nucleated skeletal muscle fibers, Facial diplegia... |
ORPHA:98905 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short upper lip, Brachycephaly, Abnormality of muscle size, Mandibular prognathia, Narrow palate,... |
ORPHA:364028 |
| Marden-Walker Syndrome |
|
Abnormal sternum morphology, Decreased muscle mass, High palate, Long philtrum, Joint contracture... |
OMIM:248700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, High palate, Long philtrum, Atrophic scars, Camptodactyly, Joint laxity, Midface r... |
OMIM:615539 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
| Craniofrontonasal Syndrome |
|
Brachycephaly, Toe syndactyly, Pectus excavatum, Broad hallux, Short neck, Cleft palate, Axillary... |
OMIM:304110 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Brachycephaly, Cleft upper lip, Mandibular prognathia, Palmoplantar cutis laxa, Pectus excavatum,... |
OMIM:268850 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Brachycephaly, Mandibular prognathia, Tapered finger, Small hand, Optic atrophy, Plagiocephaly, H... |
OMIM:618672 |
| Myhre Syndrome |
|
Large iliac wing, Abnormal lip morphology, Bifid uvula, Midface retrusion, Skeletal muscle hypert... |
ORPHA:2588 |
| Coffin-Lowry Syndrome |
|
Delayed closure of the anterior fontanelle, Tapered finger, Coxa valga, Lumbar kyphosis, Pectus e... |
OMIM:303600 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy, Optic nerve hypoplasia, Scapular winging, Cervical spinal cord atrophy, Distal lo... |
ORPHA:101085 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Decreased motor nerve conduction velocity, Scoliosis, Hammertoe, Tongue fascicula... |
OMIM:601596 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the eleventh cranial nerve, Cranial nerve compression, Fused cervical ... |
ORPHA:268882 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Flexion contracture, Long philtrum, Humeroradial synostosis, Wide anterior fontane... |
OMIM:207410 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
| Achondrogenesis Type 1A |
|
Umbilical hernia, Polyhydramnios, Hydrops fetalis, Short thorax, Abnormal enchondral ossification... |
ORPHA:93299 |
| Elsahy-Waters Syndrome |
|
Brachycephaly, Abnormality of the anus, Delayed eruption of teeth, Bifid uvula, Midface retrusion... |
OMIM:211380 |
| Intermediate Nemaline Myopathy |
|
Polyhydramnios, Flexion contracture, Long philtrum, Abnormal thorax morphology, EMG: myopathic ab... |
ORPHA:171433 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Mandibuloacral Dysplasia |
|
Delayed cranial suture closure, Contractures of the large joints, High palate, Acroosteolysis of ... |
ORPHA:2457 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Camptodactyl... |
ORPHA:254528 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spinal rigidity, Scoliosis, ... |
OMIM:300717 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Avascular necrosis, Mandibular prognathia, Wide mouth, Delayed eruption ... |
ORPHA:137834 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Fused cervical vertebrae, Optic ner... |
OMIM:609053 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Recurrent fractures, Kyphosis, Delayed eruption of teeth, Turricephaly, Micr... |
ORPHA:2050 |
| 49,Xxxxy Syndrome |
|
Brachycephaly, Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Taurodontia, Hip dis... |
ORPHA:96264 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky... |
OMIM:277300 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Cleft palate, Vertebral fus... |
OMIM:109400 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Micrognathia, Elbow dislocation, Pectus excavatum, Abnormal metaphysis m... |
ORPHA:2462 |
| Occipital Horn Syndrome |
|
Coxa valga, Short humerus, Pelvic bone exostoses, Pectus excavatum, Limited elbow extension, Genu... |
OMIM:304150 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Retrognathia, Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis,... |
ORPHA:1899 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... |
ORPHA:239 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Abnormal mitochondrial morphology |
ORPHA:275872 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Calf muscle hypertrophy, Tongue atrophy, Scapulohumeral muscular dystrophy, Shoulder girdle muscl... |
OMIM:158900 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Pectus excavatum, Decreased cervical spine flexion due to contractures... |
ORPHA:98855 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
| Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Joint laxity,... |
OMIM:614608 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, High palate, Generalized amyotrophy, Lower limb m... |
ORPHA:171881 |
| Emanuel Syndrome |
|
Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Micrognathia, Bifid uvula, ... |
ORPHA:96170 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Brachycephaly, Long philtrum, Optic atrophy, Cutis laxa, Micromelia, Broad hallux, Syndactyly, Sh... |
OMIM:614800 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of infantile cartilaginous skel... |
OMIM:215100 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Dumbbell-shaped humerus, Vertebral segmentation defect, Synostosis of ca... |
ORPHA:1836 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Midface retrus... |
ORPHA:1507 |
| Chst3-Related Skeletal Dysplasia |
|
Genu valgum, Flexion contracture, Intervertebral space narrowing, Long philtrum, Abnormality of t... |
ORPHA:263463 |
| Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... |
OMIM:300559 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, Hyperextensible skin, High palate, Long philtrum, Optic atrophy, Lymphedema, Biparie... |
ORPHA:1340 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Micrognathia, Pectus excavatum, Spina bifida occulta, Cleft palate, Abno... |
ORPHA:2990 |
| Trisomy 1Q |
|
Camptodactyly of finger, Polyhydramnios, Hydrops fetalis, Preaxial hand polydactyly, Short thorax... |
ORPHA:261344 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Brachycephaly, Metaphyseal cupping, Hip contracture, Short ribs, Short ... |
OMIM:156400 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly of the 5th finger, Congenital d... |
ORPHA:2141 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
2-3 toe syndactyly, Patellar subluxation, Reduced subcutaneous adipose tissue, Midface retrusion,... |
ORPHA:3041 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Striae distensae, Small hand, Kyphosis, Wide mouth, Thick lower lip vermil... |
OMIM:300354 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Brachycephaly, Mandibular prognathia, High palate, Plagiocephaly, Aganglionic megacolon, Hip dysp... |
ORPHA:247262 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Polyhydramnios, Plagiocephaly, Thoracic hypoplasia, Micrognathia, Elbow ... |
ORPHA:56304 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, P... |
ORPHA:1797 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, High palate, Sprengel anomaly, Scoliosis, Sandal gap, Brachydactyly, Abnor... |
ORPHA:2180 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Joint contracture of the hand, Kyphosis, Micrognathia, Short philtrum, Inguinal her... |
ORPHA:352490 |
| Al Kaissi Syndrome |
|
Sacral dimple, Brachycephaly, Long philtrum, Small hand, Torticollis, Clinodactyly, Thin upper li... |
OMIM:617694 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Flexion contracture, High palate, Long philtrum, Kyphosis, Death in infa... |
ORPHA:1545 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Micrognathia, Abnormal thorax morphology, Widening of cer... |
OMIM:253310 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Myopathy, Macroglossia |
ORPHA:2349 |
| White-Sutton Syndrome |
|
Brachycephaly, Mandibular prognathia, High palate, Micrognathia, Bifid uvula, Short philtrum, Joi... |
OMIM:616364 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Brachycephaly, Polyhydramnios, Micrognathia, Recurrent sinusitis, Pectus excavatum, Overlapping t... |
OMIM:213980 |
| Trisomy 13 |
|
Hydrops fetalis, Hernia, Long philtrum, Kyphosis, Optic atrophy, Narrow chest, Median cleft lip, ... |
ORPHA:3378 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Generalized amyotrophy, Elevated circulating creatine kinase conc... |
ORPHA:352447 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Camptodactyly, Pectus excavatum, Smooth philtrum, Narrow maxilla, Frontal bossing, Soft skin, Car... |
OMIM:617602 |
| Gorlin Syndrome |
|
Brachycephaly, Vertebral fusion, Mandibular prognathia, Vertebral wedging, Brachydactyly, Frontal... |
ORPHA:377 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
| Even-Plus Syndrome |
|
Vertebral clefting, Brachycephaly, High palate, Hypodontia, Midface retrusion, Anal atresia, Olig... |
OMIM:616854 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Pierre-Robin sequence, High palate, Micrognathia, Clinodactyly, Camptodactyly, Intrauterine growt... |
OMIM:613604 |
| Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
| Alg12-Cdg |
|
Polyhydramnios, Micrognathia, Camptodactyly, Midface retrusion, Ulnar deviation of the wrist, Pro... |
ORPHA:79324 |
| Monosomy 9P |
|
Brachycephaly, High palate, Long philtrum, Hernia, Abnormality of the tarsal bones, Micrognathia,... |
ORPHA:261112 |
| Sialidosis Type 2 |
|
Pedal edema, Flexion contracture, Hydrops fetalis, Short thorax, Kyphosis, Inguinal hernia, Tremo... |
ORPHA:87876 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Brachycephaly, Widely spaced teeth, Microdontia, Premature loss of primary teeth, Frontal bossing... |
OMIM:617364 |
| Sweeney-Cox Syndrome |
|
Brachycephaly, Polyhydramnios, High palate, 2-5 toe syndactyly, Wide anterior fontanel, 2-5 finge... |
OMIM:617746 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Long philtrum, Aplasia of t... |
ORPHA:1358 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Crowded maxillary incisors, Narrow palate, Plagiocephaly, Hip dysplasia,... |
ORPHA:2063 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
| Weill-Marchesani Syndrome 2 |
|
Brachycephaly, Elbow flexion contracture, Delayed skeletal maturation, Flexion contracture of toe... |
OMIM:608328 |
| Clark-Baraitser syndrome |
|
Genu valgum, Tapered finger, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion,... |
OMIM:300602 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Pectus excavatum... |
ORPHA:1707 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Polyhydramnios, Limb-girdle muscle weakness, High palate, Muscle fiber atrophy, Neuropathic spina... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Polyhydramnios, Limb-girdle muscle weakness, High palate, Muscle fiber atrophy, Neuropathic spina... |
ORPHA:590 |
| Carpenter Syndrome 2 |
|
Brachycephaly, Camptodactyly, Midface retrusion, Pectus excavatum, Short neck, Oxycephaly, Narrow... |
OMIM:614976 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Brachycephaly, Dental malocclusion, Vertebral fusion, High palate, Narrow palate, Wide mouth, Dee... |
OMIM:227330 |
| Winchester Syndrome |
|
Kyphosis, Arthropathy, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Gingival o... |
OMIM:277950 |
| Scheuermann Disease |
|
Osteochondrosis, Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Pedal edema, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abn... |
ORPHA:439 |
| Mucopolysaccharidosis Type 6 |
|
Genu valgum, Hernia, Kyphosis, Thick lower lip vermilion, Macroglossia, Epiphyseal dysplasia, Sho... |
ORPHA:583 |
| Cranioectodermal Dysplasia 3 |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Scaphocephaly, Rhizomelia, Cutis laxa, Widely spac... |
OMIM:614099 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Pectus excavatum, Decreased cervical spine flexion due to contractures... |
ORPHA:98863 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, Abnormal form of the... |
ORPHA:3258 |
| Ivic Syndrome |
|
Absent thumb, Short femur, Pectoralis major hypoplasia, Short 1st metacarpal, Carpal synostosis, ... |
OMIM:147750 |
| Arthrogryposis, Distal, Type 5 |
|
Absent phalangeal crease, Congenital finger flexion contractures, Distal arthrogryposis, Decrease... |
OMIM:108145 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... |
ORPHA:93351 |
| Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Tooth agenesis, Abnormal dental enamel morphology, Short... |
ORPHA:2092 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, 2-3 toe syndactyly, High palate, Long philtrum, Kyphosis, Tapered finger, Micrognat... |
OMIM:617061 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Mandibular prognathia, Everted upper lip vermilion, Velopharyngeal insufficiency, ... |
OMIM:182290 |
| Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Midface retrusion, Elbow dislocation, Spina bifida occulta, Pe... |
OMIM:150250 |
| 20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Retrognathia, Brachycephaly, Short foot, Lingual dystonia, Tented philtrum, Abnorm... |
ORPHA:363659 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Mandibular prognathia, Kyphosis, Elbow flexion contracture, Left ventri... |
OMIM:619040 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Lymphedema, Narrow chest, Micrognathia, Midface retrusion... |
ORPHA:1426 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Aplasia of the 1st metacarpal, Absent thumb, Tapered finger, Aplasia of the dista... |
ORPHA:3472 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va... |
OMIM:608940 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Sacral dimple, Brachycephaly, Mandibular prognathia, High palate, Thick lower lip vermilion, Join... |
OMIM:615828 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Optic atrophy, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, ... |
ORPHA:168549 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Brachycephaly, Tapered finger, Delayed eruption of teeth, Micrognathia, Camp... |
OMIM:619148 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Vertebral arch anomaly, Obtuse angle of mandible, High palate, Coxa valga, Sh... |
ORPHA:85184 |
| Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... |
OMIM:252100 |
| Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Brachycephaly, Parietal foramina, Kyph... |
OMIM:603116 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Wrist pain, Metatarsal osteolysis, Micrognathia, Ankle pain, Metacarpal osteolysi... |
OMIM:166300 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Optic atrophy, Micrognathia, Hip dysplasia, Frontal bossing, Dystonia, Sco... |
OMIM:617183 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Tongue fasciculations, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| 6P22 Microdeletion Syndrome |
|
Hernia, Finger syndactyly, Clinodactyly, Redundant skin, Abnormal palate morphology, Short neck |
ORPHA:251046 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Skull asymmetry, Coxa valga, Plagiocephaly, Micrognathia, Pectus excavatum, Scap... |
OMIM:150230 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Broad femoral neck, Flexion contracture, Tapered finger, Short femoral neck, Hyperextensible skin... |
ORPHA:157965 |
| Fontaine Progeroid Syndrome |
|
Brachycephaly, Microdontia, Micrognathia, Reduced subcutaneous adipose tissue, Midface retrusion,... |
OMIM:612289 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Toe syndactyly, Pectus excavatum, Short neck, Postaxial ... |
ORPHA:373 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:607155 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... |
ORPHA:64755 |
| Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Anal atresia, Hypoplastic vertebral bodies, Abnormal pelvic ... |
ORPHA:3027 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short thorax, Death in infancy, Short long bone, Vertebral segme... |
OMIM:618845 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Aplasia/Hypoplasia of the tongue, Abnormal lip morph... |
ORPHA:2759 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Flared iliac wing, Skelet... |
OMIM:230650 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Narrow palate, Kyphosis, Microdontia, Hypodontia, Pyloric stenosis, Hip disloca... |
ORPHA:96169 |
| Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Myopathy |
OMIM:610717 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Myositis, EMG: myopathic abnormalities, Myopathy, Skeletal muscle atrophy,... |
ORPHA:206569 |
| Ogden Syndrome |
|
Thick upper lip vermilion, Delayed cranial suture closure, Metatarsus valgus, Everted upper lip v... |
OMIM:300855 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Brachycephaly, Narrow mouth, High palate |
ORPHA:2528 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Pectus excavatum, Decreased cervical spine flexion due to contractures... |
ORPHA:261 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Long philtrum, Cleft soft palate, Micrognathia, Prominent fingertip pads, Camptod... |
OMIM:618529 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Pectus excavatum, Decreased cervical spine flexion due to contractures... |
ORPHA:98853 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly, 2-3 toe syndactyly, Long philtrum, Deep philtrum, Kyphosis, Micrognathia, Bifid uv... |
ORPHA:404440 |
| Loeys-Dietz Syndrome 4 |
|
Retrognathia, Protrusio acetabuli, Abnormal sternum morphology, Hyperextensible skin, High palate... |
OMIM:614816 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Centrally nucleated s... |
OMIM:619574 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Hip subluxation, Patellar dislocation, Muscle fiber atrophy, Elbow flexion contracture, Hip dislo... |
ORPHA:1900 |
| Atkin-Flaitz Syndrome |
|
Genu valgum, Tapered finger, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion,... |
OMIM:300431 |
| Shox-Related Short Stature |
|
Genu valgum, High palate, Micrognathia, Lower limb undergrowth, Cubitus valgus, Ulnar radial head... |
ORPHA:314795 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Delayed cranial suture closure, Flexion contracture, Coxa valga, Acroosteolysis of distal phalang... |
OMIM:248370 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Faciocardiomelic Syndrome |
|
Dental malocclusion, Polydactyly, Long philtrum, Wide mouth, Cuboid-shaped vertebral bodies, Slen... |
OMIM:612731 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Polyhydramnios, Cleft upper lip, Brachycephaly, Hernia, Wide mouth, Narrow chest, Ver... |
ORPHA:1394 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Brachycephaly, Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Kyphos... |
OMIM:601701 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... |
OMIM:609813 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Retrognathia, Increased variability in muscle fiber diameter, Flexion contracture, High palate, L... |
OMIM:619026 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Brachycephaly, Long philtrum, Wide mouth, Kyphosis, Pericardial effusion, Hip dislocation, Fronta... |
OMIM:608776 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Dental malocclusion, Decreased muscle mass, High palate, Mandibular prognathia, Skeletal muscle a... |
OMIM:608931 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... |
OMIM:122600 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,... |
ORPHA:93307 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
| X-Linked Intellectual Disability, Snyder Type |
|
Brachycephaly, Cerebral edema, Camptodactyly, Pectus excavatum, Everted lower lip vermilion, Smoo... |
ORPHA:3063 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Flexion contracture, Micrognathia, Midface retrusion, Premature osteoart... |
OMIM:215150 |
| Cartilage-Hair Hypoplasia |
|
Brachycephaly, Limited elbow extension, Short palm, Lumbar hyperlordosis, Esophageal atresia, Nar... |
OMIM:250250 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Optic atrophy, Bifid uvula, Optic nerve hypoplasia, Cervical ribs, Submucous cleft ... |
ORPHA:500150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Kyphosis, Myopathy, Neonatal death, Dystonia, Intrauterine gr... |
OMIM:618237 |
| Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Short 4th toe, Hypoplasi... |
OMIM:181450 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... |
ORPHA:2319 |
| Hurler Syndrome |
|
Flexion contracture, Coxa valga, Microdontia, Flared iliac wing, Hypoplasia of the femoral head, ... |
OMIM:607014 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
| Koolen-De Vries Syndrome |
|
Hip dislocation, Pectus excavatum, Everted lower lip vermilion, Slender finger, Prominent metopic... |
OMIM:610443 |
| Pycnodysostosis |
|
Delayed cranial suture closure, Increased bone mineral density, Micrognathia, Midface retrusion, ... |
ORPHA:763 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, High palate, Broad ribs, Natal tooth, Coxa valga,... |
OMIM:269300 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Accelerated bone age after puberty, Slender long bone, Miscarriage, Inguinal her... |
ORPHA:96181 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Metacarpal synostosis, Midface retrusion, Brachydactyly |
ORPHA:35099 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Dental crowding, Short neck, Hypomimic face |
ORPHA:320385 |
| 19P13.12 Microdeletion Syndrome |
|
Brachycephaly, Long philtrum, Kyphosis, Finger syndactyly, Hypodontia, Clinodactyly of the 5th fi... |
ORPHA:254346 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... |
ORPHA:57 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Thick lower lip vermilion, Intrauteri... |
OMIM:234250 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, High palate, Patellar aplasia, Narrow chest, Vertebral segmentation defe... |
ORPHA:96061 |
| Richieri Costa-Da Silva Syndrome |
|
Genu valgum, Joint dislocation, Generalized bone demineralization, Decreased muscle mass, Diastas... |
ORPHA:3101 |
| Ck Syndrome |
|
Retrognathia, Hyperlordosis, High palate, Kyphosis, Micrognathia, Joint hypermobility, Scoliosis,... |
OMIM:300831 |
| Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Downturned corners of m... |
ORPHA:1780 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Absent or minimally ossified vertebral bodies, Thoracic ... |
OMIM:215140 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, Wrist flexion contracture, Abnormal finger morphology, Hip dysplasia, Mi... |
ORPHA:436003 |
| Blepharonasofacial Malformation Syndrome |
|
Non-midline cleft lip, Long philtrum, Optic atrophy, Finger syndactyly, Redundant skin, Inguinal ... |
ORPHA:1252 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Retrognathia, Scaphocephaly, High palate, Absence of subcutaneous fat, Kyphosis, Hyperextensibili... |
OMIM:616914 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Polyhydramnios, Severe platyspondyly, Micrognathia, Elbow flexion contra... |
ORPHA:508533 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph... |
ORPHA:2919 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Metaphyseal striations... |
OMIM:608154 |
| Alagille Syndrome |
|
Brachycephaly, Butterfly vertebral arch, Vertebral segmentation defect, Micrognathia, Short philt... |
ORPHA:52 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Brachycephaly, Micrognathia, Short neck, Lateral clavicle hook, Cle... |
OMIM:617925 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Polyhydramnios, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion con... |
ORPHA:1692 |
| Sclerosteosis 1 |
|
Dental malocclusion, Mandibular prognathia, Optic atrophy, Facial palsy secondary to cranial hype... |
OMIM:269500 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Abnormal number of incisors, Coxa valga, Patellar subluxation, Supernumerary ribs, ... |
ORPHA:2958 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Retrognathia, Flexion contracture, High palate, Pierre-Robin sequence, Tapered finger, Plagioceph... |
OMIM:254940 |
| Osteogenesis Imperfecta, Type Xx |
|
Retrognathia, Brachycephaly, Mandibular prognathia, High palate, Narrow palate, Plagiocephaly, Mi... |
OMIM:618644 |
| Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Long philtrum, Thin upper lip vermilion, Flat occiput, Smooth philtrum, Prominent ... |
ORPHA:46 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Cutis laxa, Joint laxity, Pectus excavatum, Oligohydramnios, Congenital diaphragmatic hernia, Red... |
OMIM:219100 |
| Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Tapered finger, Plagiocephaly, Pericardial effusio... |
ORPHA:1272 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Retrognathia, Ankle clonus, Long philtrum, Cutis laxa, Thin upper lip vermilion, Head titubation,... |
OMIM:619691 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Cervical C2/C3 vertebral fusion, High palate, Long philtrum, Small hand, Plagioc... |
ORPHA:444077 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Turricephaly, 2-5 finger cutaneous syndactyly, Short philtrum, ... |
OMIM:601224 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Ascites, Petechiae, Thin ribs |
OMIM:617397 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr... |
OMIM:609945 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... |
OMIM:184460 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Cleft palate, Genu valgum, Flexion contracture of ... |
ORPHA:2712 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Muscle fiber atrophy, Facial palsy, Myopathy, Scapular winging, Ragged-red muscle fibers, Hand mu... |
ORPHA:254886 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
High palate, Cutis laxa, Dermal translucency, Micrognathia, Prominence of the premaxilla, Oligohy... |
OMIM:614437 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Dental crowding, Short neck, Hypomimic face |
OMIM:615031 |
| Zaki Syndrome |
|
Sacral dimple, Hyperextensible skin, High palate, Wide mouth, Toe syndactyly, Micrognathia, Short... |
OMIM:619648 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Intention tremor, Decrea... |
OMIM:618356 |
| Schaaf-Yang Syndrome |
|
Retrognathia, Abnormality of the philtrum, Flexion contracture, Tapered finger, Small hand, Kypho... |
OMIM:615547 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:300179 |
| Neonatal Marfan Syndrome |
|
Enlarged thorax, Flexion contracture, Cutis laxa, Micrognathia, Dolichocephaly, Joint hypermobili... |
ORPHA:284979 |
| Atelosteogenesis, Type Iii |
|
Micrognathia, Midface retrusion, Prominent occiput, Elbow dislocation, Short neck, Cleft palate, ... |
OMIM:108721 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Micrognathia, Ascites, Cutis laxa |
OMIM:301045 |
| Rahman Syndrome |
|
Redundant skin, Kyphoscoliosis, Accelerated skeletal maturation, Camptodactyly |
OMIM:617537 |
| Native American Myopathy |
|
Abnormality of the curvature of the vertebral column, High palate, Muscle fiber atrophy, Progress... |
ORPHA:168572 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Decreased activity of mitochondrial complex I, Increased mitochondrial n... |
OMIM:615578 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Joint dislocation, Tapered finger, Short 4th metacarpal, Abno... |
ORPHA:3201 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Brachycephaly, Optic atrophy, Delayed eruption of teeth, Epiphyseal stip... |
OMIM:101800 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:157973 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Brachycephaly, Cleft upper lip, High palate, Hip dysplasia, Abnormality of dental morphology, Cli... |
OMIM:612582 |
| Neu-Laxova Syndrome |
|
Polyhydramnios, Flexion contracture, Micrognathia, Bifid uvula, Prominent occiput, Everted lower ... |
ORPHA:2671 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Left ventricular hypertrophy, Ragged-red muscle fibers |
OMIM:540000 |
| Emanuel Syndrome |
|
Sacral dimple, Broad jaw, High palate, Long philtrum, Delayed eruption of primary teeth, Kyphosis... |
OMIM:609029 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Optic atrophy, Limb undergrowth, Abnormal metaphysis morphology, Gingiva... |
ORPHA:354 |
| Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle hypertrophy |
ORPHA:263494 |
| Sengers Syndrome |
|
Myopathy |
OMIM:212350 |
| Baller-Gerold Syndrome |
|
Brachycephaly, Absent thumb, Optic atrophy, Aplasia of metacarpal bones, Micrognathia, Bifid uvul... |
OMIM:218600 |
| Cohen Syndrome |
|
Tapered finger, Optic atrophy, Micrognathia, Pectus excavatum, Tooth agenesis, Gingival overgrowt... |
ORPHA:193 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Midface retrusion, Bro... |
OMIM:618019 |
| Roberts Syndrome |
|
Brachycephaly, Wrist flexion contracture, Polyhydramnios, Micrognathia, Phocomelia, Short neck, R... |
ORPHA:3103 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Palmoplantar cutis laxa, Rhizomelia, Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Midf... |
OMIM:616482 |
| Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Sacral dimpl... |
ORPHA:166108 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Toe syn... |
ORPHA:819 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Micrognathia, Short philtrum, Downturned corners of mouth, Decr... |
ORPHA:52022 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Dolichocephaly, Delayed skeletal maturation, Scoliosis, Arachnodactyly, Joint stiffness... |
ORPHA:1548 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth, Delayed skeletal maturation, Brachydactyly, Abnor... |
ORPHA:2643 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Brachycephaly, Coxa valga, Abnormal auditory evoked potentials, Hip dislocation, Hypoplasia of th... |
OMIM:109120 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Elbow flexion contracture, Flared iliac wing, Irregular capital femoral epiphysis, Short neck, De... |
OMIM:184252 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, Vertebral segmentation defect, ... |
OMIM:612530 |
| Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Blepharospasm, Plagiocephaly, Hallux valgus, Optic... |
ORPHA:794 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Hip subluxation, Short 4th metacarpal, Micrognathia, Midface retrusion, Shor... |
OMIM:615546 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Micrognathia, Clubbing of fingers, Short neck, Limb undergrowth, Cleft palat... |
ORPHA:1865 |
| Trichohepatoneurodevelopmental Syndrome |
|
Brachycephaly, Polyhydramnios, Plagiocephaly, Microdontia, Hip dislocation, Midface retrusion, Pe... |
OMIM:618268 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Plagiocephaly, Wide mouth, Clinodactyly, Macroglossia, Frontal bossing, Everted lo... |
OMIM:616789 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Cutis laxa, Dermal translucency, Pyloric stenosis, Elbow flexion contracture... |
OMIM:614438 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Death in infancy, Spina bifida, Vertebral segment... |
ORPHA:1120 |
| Menkes Disease |
|
Brachycephaly, Cutis laxa, Joint laxity, Osteoporosis, Metaphyseal widening, Intrauterine growth ... |
OMIM:309400 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Ectopic anus, Block vertebrae, Neurogenic bla... |
OMIM:613686 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, High palate, Mandibular prognathia, Distal lower limb amyotrophy, Micrognath... |
OMIM:300534 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Mi... |
OMIM:603546 |
| Osteogenesis Imperfecta, Type Xiii |
|
Enlarged thorax, Increased bone mineral density, Dislocated radial head, Reduced bone mineral den... |
OMIM:614856 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Hip dislocation, Metatarsus adductus, Short hallux, Abnormal sternal ossification, ... |
OMIM:194190 |
| Clark-Baraitser Syndrome |
|
Brachycephaly, High palate, Long philtrum, Wide mouth, Clinodactyly, Short philtrum, Dolichocepha... |
OMIM:617752 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hyperlordosis, High palate, Micrognathia, Joint laxity, Generalized limb muscle atrophy, Pallor, ... |
OMIM:600462 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Brachycephaly, Flexion contracture, Tapered finger, Cleft soft palate, Delayed e... |
OMIM:619503 |
| Gapo Syndrome |
|
Optic atrophy, Delayed eruption of teeth, Micrognathia, Abnormal thorax morphology, Midface retru... |
ORPHA:2067 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac... |
OMIM:608840 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Polyhydramnios, Delayed closure of the anterior fontanelle, Micrognat... |
OMIM:300373 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Horner syndrome, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Short ... |
OMIM:141300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Brachycephaly, Mandibular prognathia, Wide mouth, Thick lower lip verm... |
OMIM:309545 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Brachycephaly, Polyhydramnios, High palate, Plagiocephaly, Thin upper lip vermilion, Skeletal mus... |
OMIM:618862 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Aplasia of the pectoralis major mu... |
OMIM:142900 |
| Gorham-Stout Disease |
|
Pleural effusion, Osteolysis, Osteomyelitis, Osteolysis involving bones of the upper limbs, Abnor... |
ORPHA:73 |
| 7Q11.23 Microduplication Syndrome |
|
Brachycephaly, Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Pectus excav... |
ORPHA:96121 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Distal lower limb amyotrophy, Kyphosis, Distal upper limb amy... |
ORPHA:101075 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, Recurrent fractures, Kyphosis, Toe syndacty... |
ORPHA:3409 |
| Prune Belly Syndrome |
|
Volvulus, Vertebral segmentation defect, Anal atresia, Oligohydramnios, Intestinal malrotation, C... |
ORPHA:2970 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bell-shaped thorax, Hypoplastic pubic bone, Natal tooth, Coronal craniosynostosis, Micrognathia, ... |
OMIM:614592 |
| Osteogenesis Imperfecta, Type Xi |
|
Brachycephaly, Dentinogenesis imperfecta, Biconcave vertebral bodies, Protrusio acetabuli, Increa... |
OMIM:610968 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Turricephaly, Abnormally ossified vertebrae, Abno... |
ORPHA:2167 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... |
OMIM:615595 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Delayed calcaneal ossification, Bifid uvula, Hip dislocation, Short neck, Ovoid vertebral bodies,... |
OMIM:183900 |
| 15Q24 Microdeletion Syndrome |
|
Hernia, Long philtrum, Kyphosis, Small hand, Thick lower lip vermilion, Clinodactyly, Anal atresi... |
ORPHA:94065 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
| 13Q12.3 Microdeletion Syndrome |
|
Hip dysplasia, Oligodontia, Camptodactyly, Thin upper lip vermilion, Congenital diaphragmatic her... |
ORPHA:412035 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Mitochondrial swelling, Myalgia, Exercise intolerance, Exercise-induced myalgia,... |
OMIM:618250 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Flexion contracture, Delayed eruption of teeth, Flared iliac wing, Anteri... |
OMIM:253200 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Coxa vara, Optic atrophy, Short femoral neck, Rhizomelia, Thoracic hypoplas... |
OMIM:602271 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Short toe, Tapered finger, Long philtrum, Wide mouth, Hallux valgus, Microgna... |
OMIM:618659 |
| Cebalid Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Turricephaly, Midface retrusion, Dolichocephaly, Conge... |
OMIM:618774 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Toe syndactyly, Micrognathia, Death in infancy, Hip dislocation, Median cleft lip, Po... |
OMIM:241800 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Shoulder dislocation, Short phalanx of finger, Flexion contracture, Dela... |
OMIM:143095 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Bell-shaped thorax, Joint dislocation, Hernia, Abnormality of the elbow, Rhizomelia, Short ribs, ... |
ORPHA:1842 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Weakness of long finger extensor muscles, High palate, Abnormality of masticatory muscle, Triceps... |
ORPHA:98913 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplasti... |
OMIM:184250 |
| Wolf-Hirschhorn Syndrome |
|
Optic atrophy, Micrognathia, Abnormal lip morphology, Abnormal thorax morphology, Short hallux, D... |
ORPHA:280 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Midface retrusion, Shorte... |
OMIM:271700 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Hyperextensible skin, Cleft soft palate, Cutis laxa, Atrophic scars, Type 1 muscl... |
OMIM:614557 |
| Hurler Syndrome |
|
Camptodactyly of finger, Abnormal nerve conduction velocity, Hernia, Abnormality of the elbow, De... |
ORPHA:93473 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
| Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Microdontia, Micr... |
OMIM:190350 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Coxa valga, Plagiocephaly, Hip dislocation, Clubbing of fingers, Elbow dislocation, Tethered cord... |
OMIM:620083 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Midface retrusion,... |
OMIM:180700 |
| Tetrasomy 5P |
|
Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Long philtrum, Wide anterior f... |
ORPHA:3309 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Gingival recession, Joint dislocation, Hyperextensible skin, Periodontitis, Gingival fragility, J... |
OMIM:617174 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Scaphocephaly, Small hand, Widely spaced teeth, Microgn... |
ORPHA:459061 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Macroglossia, Increased muscle lipid content, Increased muscle glycogen content, Hypertrophied mu... |
OMIM:500009 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Brachycephaly, Lip pit, Tapered finger, Mandibular prognathia, Hypodonti... |
ORPHA:1236 |
| Angelman Syndrome |
|
Brachycephaly, Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia o... |
OMIM:105830 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Brachycephaly, Tapered finger, Long philtrum, Pectus excavatum of inferior sternum, Superior pect... |
OMIM:601353 |
| Kury-Isidor Syndrome |
|
Sacral dimple, Brachycephaly, High palate, Long philtrum, Finger syndactyly, Widely spaced teeth,... |
OMIM:619762 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Brachycephaly, Flexion contracture, Tapered finger, Plagiocephaly, Generalized amyotrophy, Widely... |
OMIM:301072 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Increased bone mineral density, Micrognathia, Distal shortening of limbs, Short t... |
ORPHA:50945 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Short tibia, Bifid tongue, Hypoplastic facial bones, Midface retrusion, Unicoron... |
OMIM:616300 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Arthrogryposis multiplex congenita, Oligohydr... |
OMIM:236500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed closure of the anterior fontanelle, Hyperextensibility of the finger joints, Widely space... |
OMIM:619797 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Increased adipose tissue, Kyphosis, Spinal rigidity, Scoliosis, Proximal amyotrophy |
OMIM:617404 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness |
OMIM:615156 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Contractures of the large joints, High palate, Long philtrum, Hyper... |
ORPHA:521426 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... |
OMIM:609616 |
| Arthrogryposis, Distal, Type 2A |
|
Wrist flexion contracture, Polyhydramnios, Abnormal auditory evoked potentials, Elbow flexion con... |
OMIM:193700 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno... |
ORPHA:329478 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Sagittal craniosynostosis, Plantar flexion contracture, Cutaneous syndactyly of toes, Temporomand... |
ORPHA:2872 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Accelera... |
ORPHA:380 |
| Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Flattened femoral head, Flared iliac wing, Hypoplastic verte... |
ORPHA:79255 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Brachycephaly, Ankle clonus, High palate, Scoliosis, Brachydactyly, Intention trem... |
OMIM:619995 |
| Kohlschutter-Tonz Syndrome-Like |
|
Brachycephaly, 2-3 toe syndactyly, Delayed eruption of teeth, Midface retrusion, Smooth philtrum,... |
OMIM:619229 |
| Stickler Syndrome |
|
Micrognathia, Hip dislocation, Midface retrusion, Tooth agenesis, Cleft palate, Glossoptosis, Abn... |
ORPHA:828 |
| Trisomy 9P |
|
Sacral dimple, Non-midline cleft lip, Brachycephaly, Kyphosis, Clinodactyly of the 5th finger, Do... |
ORPHA:236 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Brachycephaly, Flexion contracture, Tapered finger, Optic atrophy, Micrognathia, Camptodactyly, P... |
OMIM:309590 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Brachycephaly, Thoracic dysplasia, Median cleft lip, Lateral clavicle hook, Post... |
OMIM:263520 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, High palate, Generalized joint laxity, Micrognath... |
ORPHA:502423 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Lower limb muscle weakness, Tongue atrophy, Foot dorsiflexor weakness, Scoliosis, Upper limb musc... |
OMIM:616155 |
| 9P13 Microdeletion Syndrome |
|
Brachycephaly, High palate, Clinodactyly of the 5th finger, Hand tremor, Joint stiffness, Abnorma... |
ORPHA:324313 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
| Viss Syndrome |
|
Brachycephaly, Polyhydramnios, Bifid tongue, Cleft soft palate, Micrognathia, Bifid uvula, Hip di... |
OMIM:619472 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Polyhydramnios, Abnormality of joint mobility, Abnormality of the cervical spine, T... |
ORPHA:314621 |
| Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Metatarsus adductus, Short neck, Narrow greater sciatic notch, Gingival over... |
OMIM:253220 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Kyphosis, Delayed ossification of carpal bones, Inguinal hernia, Brachydactyl... |
OMIM:618392 |
| Restrictive Dermopathy 1 |
|
Polyhydramnios, Flexion contracture, Micrognathia, Ankylosis, Scaling skin, Increased anteriopost... |
OMIM:275210 |
| Stevenson-Carey Syndrome |
|
Brachycephaly, Pierre-Robin sequence, Joint contracture of the hand, Hip dysplasia, Camptodactyly... |
OMIM:611961 |
| Hunter-Macdonald Syndrome |
|
Delayed cranial suture closure, 2-3 toe syndactyly, Brachycephaly, Pseudoepiphyses, Joint contrac... |
OMIM:611962 |
| Tonne-Kalscheuer Syndrome |
|
Widely spaced teeth, Micrognathia, Velopharyngeal insufficiency, Congenital diaphragmatic hernia,... |
OMIM:300978 |
| Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Microdontia, Vertebral segmentation defect, Micrognathia, Biparietal narro... |
ORPHA:1915 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Long philtrum, Clinodactyly, Hip dislocation, Thin upper lip ... |
OMIM:615583 |
| Arthrogryposis, Distal, Type 2B1 |
|
Camptodactyly of finger, Absent phalangeal crease, Distal arthrogryposis, Mandibular prognathia, ... |
OMIM:601680 |
| Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Generalized amyotrophy, Lower limb muscle weakne... |
OMIM:612954 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Lack of skin elasticity, Abnormal finger morphology, Abnormal metacarpal... |
ORPHA:2900 |
| Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Shor... |
OMIM:244600 |
| Alg9-Cdg |
|
Delayed cranial suture closure, Brachycephaly, Pericardial effusion, Micrognathia, Bifid uvula, H... |
ORPHA:79328 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Bell-shaped thorax, High palate, Death in childhood, Brachyturricephaly, Wide anterior fontanel, ... |
OMIM:214100 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
High palate, Type 1 muscle fiber predominance, Pectus excavatum, Nemaline bodies, Scapular wingin... |
OMIM:617336 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Midface retrusion, Ov... |
OMIM:154400 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Achondrogenesis Type 2 |
|
Unossified sacrum, Pierre-Robin sequence, Abnormal bone ossification, Hypoplastic ilia, Short rib... |
ORPHA:93296 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Recurrent shoulder dislocation, Hallux valgus, Pectus excavatum, Genu recurvatum, Genu valgum, Hy... |
ORPHA:230851 |
| Myasthenic Syndrome, Congenital, 19 |
|
Retrognathia, Increased variability in muscle fiber diameter, High palate, Spinal rigidity, Micro... |
OMIM:616720 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Decreased muscle mass, EMG: myopathic abnorma... |
ORPHA:263297 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Kyphosis, Hip dysplasia, Scol... |
ORPHA:1858 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Down Syndrome |
|
Brachycephaly, Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Clin... |
ORPHA:870 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Flexion co... |
OMIM:607855 |
| Fetal Trimethadione Syndrome |
|
Brachycephaly, High palate, Micrognathia, Midface retrusion, Scoliosis, Intrauterine growth retar... |
ORPHA:1913 |
| Aicardi Syndrome |
|
Bifid ribs, Multiple lipomas, Cleft upper lip, Plagiocephaly, Small hand, Optic atrophy, Block ve... |
ORPHA:50 |
| Mucopolysaccharidosis, Type Ix |
|
Hyperextensibility at wrists, Knee pain, Lumbar scoliosis, Finger joint hypermobility, Synovitis,... |
OMIM:601492 |
| Sialidosis Type 1 |
|
Short thorax, Hernia, Kyphosis, Thick lower lip vermilion, Frontal bossing, Decreased nerve condu... |
ORPHA:812 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Contractures of the large joints, High palate, Long philtrum, Kypho... |
OMIM:617527 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Joint contracture of the hand, Short ribs, Short long bone... |
OMIM:224400 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Grayish enamel, Micrognathia, Pectus excavatum, Delayed skeletal matur... |
ORPHA:2980 |
| Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
| Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Ca... |
OMIM:618947 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Ollier Disease |
|
Multiple enchondromatosis, Skin ulcer, Micromelia, Osteolysis, Platyspondyly, Abnormal metaphysis... |
ORPHA:296 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Gingi... |
ORPHA:97360 |
| Chromosome 18P Deletion Syndrome |
|
High palate, Coxa vara, Toe syndactyly, Micrognathia, Hypomimic face, Clinodactyly of the 5th fin... |
OMIM:146390 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Contractures of the large joints, Metaphyseal cupping, Coxa vara, Short... |
OMIM:616716 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Bell-shaped thorax, Genu valgum, Firm muscles, Vertebral wedging, Kyphoscoliosis, Skeletal muscle... |
OMIM:255710 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, ... |
OMIM:609560 |
| Temple Syndrome |
|
Flexion contracture, High palate, Small hand, Micrognathia, Bifid uvula, Short philtrum, Clinodac... |
OMIM:616222 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Brachycephaly, High palate, Midface retrusion, Mi... |
ORPHA:1784 |
| Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd... |
OMIM:616145 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Wide mouth, Missing ribs, Hand polydactyly, Congenital hip dislocation, Congen... |
ORPHA:1647 |
| Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Coxa valga, Micrognathia, Hip dislocation, Midface retrusi... |
ORPHA:3107 |
| Kleefstra Syndrome 1 |
|
Brachycephaly, Tracheobronchomalacia, Mandibular prognathia, Natal tooth, Midface retrusion, Macr... |
OMIM:610253 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hernia, Cutis laxa, Premature skin wrinkling, Hip dislocation, Ad... |
OMIM:616603 |
| Seckel Syndrome 1 |
|
Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated ra... |
OMIM:210600 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Kyphosis, Vertebral segmentation defect, Micrognathia, Abnormal palat... |
ORPHA:2617 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Multiple lipomas, Mandibular prognathia, High pal... |
OMIM:617675 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Abnormal thorax morphology, Clinodactyly, Syndactyly, Scolios... |
ORPHA:1445 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypotension, Pulmonary edema, Cardiac arrest, Hypoxemia, Bradycardia, Tachycardia |
ORPHA:70587 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Tapered finger, Achalasia, Micrognathia, Hip dislocation, Midface retrusion,... |
OMIM:616007 |
| Moebius Syndrome |
|
Microdontia, Micrognathia, Everted lower lip vermilion, Tooth agenesis, Cleft palate, Absent hand... |
ORPHA:570 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Hyperlordosis, High palate, Long philtrum, Avascular necrosis of the cap... |
ORPHA:77258 |
| Sprengel Deformity |
|
Neck muscle hypoplasia, Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentati... |
OMIM:184400 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Metatarsus adductus, Pectus excavatum, Aplasi... |
ORPHA:2461 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Patellar dislocation, Micrognathia, Limb undergrowth, Limited elbow extension, Cleft palate, Knee... |
OMIM:614078 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Flexion contracture, Tongue atrophy, Hip dislocation, Skeletal muscle atrophy, Tongue fasciculations |
OMIM:614678 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Micrognathia, Abnormal... |
ORPHA:1752 |
| Pycnodysostosis |
|
Spondylolysis, Narrow palate, Delayed eruption of primary teeth, Aplastic clavicle, Hypodontia, I... |
OMIM:265800 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
| Cohen Syndrome |
|
Short metatarsal, Genu valgum, Tapered finger, Macrodontia of permanent maxillary central incisor... |
OMIM:216550 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, Tapered finger, Plagiocephaly, Micrognathia, Pectus excavatum, Smooth philtrum, S... |
OMIM:619841 |
| Xylt1-Cdg |
|
Joint dislocation, Coxa valga, Long philtrum, Short femoral neck, Short long bone, Accelerated sk... |
ORPHA:370930 |
| Hamamy Syndrome |
|
Neck pterygia, Brachycephaly, Tapered finger, Micrognathia, Pectus excavatum, Everted lower lip v... |
OMIM:611174 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Brachycephaly, Scarring, Pectus excavatum, Cleft palate, Arthrogr... |
OMIM:601776 |
| White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Dolichocephaly, Spina bifida oc... |
ORPHA:2475 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy |
ORPHA:26792 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Microretrognathia, Abnormal clavicle morphology, Abnormal rib morpho... |
ORPHA:276422 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Foot dorsiflexor weakness, Split hand, Scoliosis, High, narrow palate |
OMIM:618124 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Knee flexion contracture, 11 pairs of ribs, Hip contracture, Long philtrum, Micrognathia, Elbow f... |
OMIM:616266 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Achilles tendon contr... |
ORPHA:254361 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Tremor, Decreased nerve conduction velocity, Skeletal muscle atrophy, Scoliosis |
ORPHA:101078 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Choreoathetosis, Dystonia |
ORPHA:71277 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Brachycephaly, High palate, Micrognathia, Overlapping toe, Preaxial polydactyly, Ov... |
OMIM:618142 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Retrognathia, High palate, Long philtrum, Tapered finger, Micrognathia, Elbow flexion contracture... |
OMIM:272430 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Brachycephaly, Ankle clonus, High palate, Long philtrum, Deep philtrum, Metopic synostosis, Hypop... |
OMIM:615398 |
| 3C Syndrome |
|
Ectopic anus, Optic atrophy, Micrognathia, Prominent occiput, Short neck, Cleft palate, Orofacial... |
ORPHA:7 |
| Bruck Syndrome 1 |
|
Knee flexion contracture, Protrusio acetabuli, Increased susceptibility to fractures, Hip contrac... |
OMIM:259450 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Kyphosis, Micrognathia, Congenital diaphragmatic hernia, Downturned corner... |
ORPHA:2075 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Death in infancy |
OMIM:614876 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Angulated humerus, Short long bone, Rhizomelia, Multiple rib fractures, Narr... |
OMIM:616229 |
| Ruijs-Aalfs Syndrome |
|
Micrognathia, Elbow flexion contracture, Clinodactyly, Down-sloping shoulders, Frontal bossing, T... |
OMIM:616200 |
| Branchioskeletogenital Syndrome |
|
Brachycephaly, Unilateral cleft palate, Bifid uvula, Pectus excavatum, Short neck, Amelia involvi... |
ORPHA:1299 |
| Acrocallosal Syndrome |
|
Triphalangeal thumb, Wide anterior fontanel, Prominent occiput, Congenital diaphragmatic hernia, ... |
ORPHA:36 |
| Barth Syndrome |
|
Exercise intolerance, Skeletal myopathy, Fatigue, Abnormal mitochondrial morphology |
OMIM:302060 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Micrognathia, Missing ribs, Pectus excavatum, Short neck, Scoliosis, H... |
ORPHA:52047 |
| Ruvalcaba Syndrome |
|
Short phalanx of finger, Short metatarsal, Short foot, Kyphosis, Short metacarpal, Small hand, Mi... |
OMIM:180870 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Microdontia, Elbow flexion contracture, Broad distal phalanx of the toes, Pectus excavatum, Short... |
OMIM:619194 |
| Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Delayed eruption of primary teeth, Aplastic clavicle, Plagiocephaly, Wid... |
OMIM:620099 |
| Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Broad phalanges of the hand, Tooth malposition, Narrow palate, Abnormality of dent... |
OMIM:277600 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Tapered finger, Plagiocephaly, Accelerated skeletal maturation, Clinodactyly of th... |
OMIM:618430 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Metaphyseal dysplasia... |
OMIM:271650 |
| Orofaciodigital Syndrome Xix |
|
Retrognathia, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, To... |
OMIM:620107 |
| Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Abnormality of the elbow, Kyphosis, Short metacarpal, Small hand, Synostos... |
ORPHA:3121 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Limb dystonia, Upper limb hypertonia, Joint hyperflexibility, Pectus carinatum |
ORPHA:319199 |
| Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, 2-3 toe syndactyly, Bifid tongue, Optic atrophy, Micrognathia, Biparietal narrowi... |
ORPHA:818 |
| Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, High palate, Narrow palate, Wide mouth, Tapered finger, Plagiocephaly, Hip dysplas... |
OMIM:619435 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Delayed eruption of teeth, Micrognathia, Delayed skeletal maturation, Abnormal den... |
OMIM:257850 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:615980 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Narrow palate, Finger syndactyly, Vertebral segmentation ... |
ORPHA:1323 |
| Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Plagiocephaly, B... |
ORPHA:233 |
| Myasthenic Syndrome, Congenital, 10 |
|
Proximal amyotrophy, Distal amyotrophy, Weakness of facial musculature, Tongue atrophy |
OMIM:254300 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Narrow chest,... |
OMIM:215045 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Kyphosis, Calf muscle hypertrophy, Internally nuc... |
OMIM:618138 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Reduced subcutaneo... |
OMIM:619322 |
| Vacterl/Vater Association |
|
Non-midline cleft lip, Polyhydramnios, Preaxial hand polydactyly, Finger syndactyly, Vertebral se... |
ORPHA:887 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Congenital diaphragmatic hernia, Tremor, Scoliosis, Sm... |
ORPHA:370079 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, High palate, Arthropathy, Arthritis, Limitation ... |
OMIM:259100 |
| Campomelia, Cumming Type |
|
Hydrops fetalis, Lymphedema, Death in infancy, Abnormal thorax morphology, Clubbing of toes, Micr... |
ORPHA:1318 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Retrognathia, Long philtrum, Cleft soft palate,... |
ORPHA:2756 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Micrognathia, Finger syndactyly, Brachycephaly |
ORPHA:1514 |
| Achondroplasia |
|
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... |
ORPHA:15 |
| Baller-Gerold Syndrome |
|
Brachycephaly, Aplasia/Hypoplasia of the thumb, High palate, Abnormal carpal morphology, Brachytu... |
ORPHA:1225 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly, Wide mouth, Kyphosis, Spinal rigidity, Micrognathia, Short philtrum, Bone pain, Jo... |
ORPHA:2062 |
| Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Prominent occiput, Delayed sk... |
ORPHA:3380 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Midface retrusion, Short palm, Short toe... |
OMIM:250215 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Hydrops fetalis, Hypoplastic frontal sinuses, Hypodontia,... |
OMIM:253250 |
| Achondrogenesis, Type Ib |
|
Polyhydramnios, Absent or minimally ossified vertebral bodies, Hydrops fetalis, Hypoplastic ilia,... |
OMIM:600972 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Bifid tongue, Thoracic hypoplasia, Lateral clavicle hook, Cleft palate, Short ri... |
OMIM:613091 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... |
OMIM:607459 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Joint dislocation, Short 4th metacarpal, High palate, Joint laxity, Microretrognathia, Short clav... |
OMIM:606220 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Congenital muscular dystrophy, Joint hyperflexibility, Kyphosis |
ORPHA:1875 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Micrognathia, Facial hypotonia, Broad thumb, Smooth philtr... |
OMIM:614526 |
| Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Polyhydramnios, Diastasis recti, Coxa valga, Thoracic hypoplasia, Bell-... |
ORPHA:254519 |
| Gómez-López-Hernández Syndrome |
|
Brachycephaly, Thin vermilion border, Midface retrusion, Turricephaly |
ORPHA:1532 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Glycogen Storage Disease Iii |
|
Distal amyotrophy, Myopathy |
OMIM:232400 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Hypoplastic pubic bone, Thoracic hypoplasia, Short long bone, Flat acetabu... |
OMIM:608728 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Brachycephaly, Foot joint contracture, Joint contracture of the hand, Decreased motor nerve condu... |
ORPHA:456312 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Retrognathia, Brachycephaly, Wide mouth, Optic atrophy, Microdontia, Abnormal lip morphology, Mic... |
ORPHA:2707 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Brachycephaly, High palate, Widely spaced teeth, Clinodactyly of the 5th finger, Midface retrusio... |
OMIM:300260 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Lack of skin elasticity, Long philtrum, Finger syndactyly, Submucous cle... |
ORPHA:178303 |
| Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Short foot, Coronal craniosynostosis, Carpal synostosis, Malar flat... |
ORPHA:53271 |
| Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Progressive intervertebral space narrowing, Micrognathia, A... |
ORPHA:1716 |
| 8Q12 Microduplication Syndrome |
|
Brachycephaly, Long philtrum, Everted lower lip vermilion, Narrow mouth, Abnormal cranial nerve m... |
ORPHA:228399 |
| Crouzon Syndrome |
|
Brachycephaly, Narrow palate, Turricephaly, Optic atrophy, Midface retrusion, Abnormal sacrum mor... |
ORPHA:207 |
| Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Kyphosis, Fronta... |
OMIM:169400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Kyphosis, Pectus excavatum, Hypoplasia of the maxilla, Scolio... |
OMIM:300676 |
| Chopra-Amiel-Gordon Syndrome |
|
Brachycephaly, Pierre-Robin sequence, Short philtrum, Midface retrusion, Joint hypermobility, Thi... |
OMIM:619504 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... |
ORPHA:392 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Short toe, Tapered finger, Kyphosis, Shortening of all distal... |
OMIM:301900 |
| 2Q23.1 Microdeletion Syndrome |
|
Brachycephaly, Hip dysplasia, Clinodactyly of the 5th finger, Everted lower lip vermilion, Malar ... |
ORPHA:228402 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Retrognathia, Polyhydramnios, Coxa valga, Hypodontia, Butterfly vertebrae, Midface retrusion, Int... |
OMIM:301056 |
| Cree Mental Retardation Syndrome |
|
Brachycephaly, Cleft soft palate, Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia o... |
OMIM:606851 |
| Monosomy 9Q22.3 |
|
Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Kyphosis, Delayed eruption of tee... |
ORPHA:77301 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilio... |
ORPHA:251014 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Limb hypertonia, Optic atrophy, Spina bifida, Micrognathia, Death in infancy, ... |
ORPHA:99742 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Spinal instability |
OMIM:251250 |
| Kbg Syndrome |
|
Brachycephaly, Vertebral fusion, Vertebral arch anomaly, Long philtrum, Thoracic kyphosis, Oligod... |
OMIM:148050 |
| Nicolaides-Baraitser Syndrome |
|
Joint dislocation, Hernia, Long philtrum, Wide mouth, Abnormal finger morphology, Excessive wrink... |
ORPHA:3051 |
| Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, High palate, Spina bifida, 2-3 finger syndactyly, Micrognathia, Thin cal... |
ORPHA:2437 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Hip contracture, Tapered finger, Small hand, Ankyloglossia, Clinodactyl... |
ORPHA:488642 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Deep philtrum, Broad proximal phalanges of the hand, Everted lower lip v... |
ORPHA:505652 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Small hand, Kyphosis, Hip dislocation, Scoliosis, Short foot |
OMIM:300434 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Brachycephaly, Polyhydramnios, Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, ... |
OMIM:619859 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Enamel hypoplasia, Increased variability in muscle fiber diameter, High palate, Fro... |
OMIM:617915 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Arthropathy, Enlar... |
OMIM:208230 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Short philtrum, Anal atresia, Redundant skin, Downturned corners of mouth, Abnormal sacroiliac jo... |
ORPHA:1807 |
| Intellectual Disability-Strabismus Syndrome |
|
Congenital finger flexion contractures, Polyhydramnios, High palate, Plagiocephaly, Wide mouth, J... |
ORPHA:363528 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Brachycephaly, Tapered finger, Cleft soft palate, Microdontia, Reduced subcutaneous adipose tissu... |
OMIM:619950 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Micrognathia, Camptodactyly, Midface retrusion, Short neck... |
OMIM:616894 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Toe syndactyly, Biparietal narrowing, Short neck, Short palm, Down-slopi... |
ORPHA:85293 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricu... |
ORPHA:99103 |
| Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Broad distal phalanx of the toes, Everted lower lip vermilion, Overlapping to... |
ORPHA:464738 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Micromelia, Abnormal pel... |
ORPHA:474 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, EMG: myopathic abnorma... |
ORPHA:99939 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Long philtrum, Widely spaced teeth, Broad clavicles, Hip dysplasia, L... |
OMIM:619698 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Polyhydramnios, Plagiocephaly, Optic atrophy, Widely spaced teeth, Neurogenic bladder, Micrognath... |
ORPHA:496641 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Radial bowing, Micrognathia, Lower limb undergrowth, Intestinal malrotation, Abnorma... |
ORPHA:3035 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa valga, Micrognathia, Scarring, Hip dislocation, Femoral hernia, Hyperextensible skin, Avascu... |
ORPHA:1901 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke,... |
ORPHA:2038 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Weakness of facial musculature, Myopathy, Skeletal muscle atrophy, Spinal muscular atrophy |
ORPHA:254875 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Abnormality of the musculature of the lower limbs, Downturned corners ... |
ORPHA:464282 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of joint mobil... |
ORPHA:3454 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Thir... |
ORPHA:99106 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Zttk Syndrome |
|
Flexion contracture, Optic atrophy, Bifid uvula, Midface retrusion, Cervical ribs, Intestinal atr... |
OMIM:617140 |
| Pyknoachondrogenesis |
|
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Short long bone, P... |
ORPHA:3003 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Abnormality of the mitochondrion |
ORPHA:330050 |
| Kaufman Oculocerebrofacial Syndrome |
|
Brachycephaly, Bell-shaped thorax, High palate, Micrognathia, Clinodactyly of the 5th finger, Dia... |
OMIM:244450 |
| 8P23.1 Microdeletion Syndrome |
|
Enlarged thorax, Tapered finger, High palate, Micrognathia, Biparietal narrowing, Congenital diap... |
ORPHA:251071 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis |
ORPHA:85288 |
| Distal Tetrasomy 15Q |
|
Retrognathia, Abnormal sternum morphology, Flexion contracture, High palate, Hernia, Kyphosis, Mi... |
ORPHA:314588 |
| Eiken Syndrome |
|
Pseudoepiphyses, Narrow pelvis bone, Midface retrusion, Flattened epiphysis, Delayed epiphyseal o... |
OMIM:600002 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy |
OMIM:618234 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Neonatal death, Intrauterine growth retardation |
OMIM:301021 |
| Opsismodysplasia |
|
Short phalanx of finger, Polyhydramnios, Severe platyspondyly, Hypoplastic vertebral bodies, Shor... |
OMIM:258480 |
| Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Increased vertebral height, Widely spaced teeth, Midface retrusion, Macrog... |
OMIM:248500 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Hypotension, Pulmonary edema, Pericardial effusion, T-wave inversion, ST segment depres... |
OMIM:261740 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Brachycephaly, Cleft soft palate, Turricephaly, Supernumerary tooth, Brachyd... |
OMIM:604757 |
| Chops Syndrome |
|
Long philtrum, Optic atrophy, Downturned corners of mouth, Brachydactyly, Tracheomalacia, High, n... |
OMIM:616368 |
| Arterial Tortuosity Syndrome |
|
Coxa valga, Hip dislocation, Abnormal zygomatic bone morphology, Femoral hernia, Rocker bottom fo... |
ORPHA:3342 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Plagiocephaly, Vertebral segmentation defect, Oligodontia, Bifid uvula, Abnormal aut... |
ORPHA:453499 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Choreoathetosis, Weakness of facial musculature, Dystonia, Scoliosis, Ragged-red ... |
OMIM:618416 |
| Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, High palate, Turricephaly, Short philtrum, Frontal bossing, Downturned corners of ... |
OMIM:613174 |
| Acrofrontofacionasal Dysostosis 2 |
|
Sacral dimple, Brachycephaly, High palate, Wide anterior fontanel, Hand polydactyly, Redundant ne... |
OMIM:239710 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Death in infancy, Narrow chest, Postaxial foot polydactyly, Lateral ... |
OMIM:617405 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Short thumb, Pterygium, Butterfly vertebrae, Radiou... |
ORPHA:2876 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Flexion contracture, Abnormal autonomic nervous system physiology, Elbow... |
ORPHA:3206 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Brachycephaly, Mandibular prognathia, High palate, Long philtrum, Optic atrophy, Plagiocephaly, M... |
OMIM:619512 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Hip dislocation, Scoliosis, Dystonia, Lumbar hyperlordosis |
OMIM:616756 |
| Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Syringomyelia, Limb undergrowth, Tethered cord, Intestina... |
ORPHA:321 |
| Fryns Syndrome |
|
Non-midline cleft lip, Polyhydramnios, High palate, Long philtrum, Ectopic anus, Wide mouth, Agan... |
ORPHA:2059 |
| Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Mandibular prognathia, Aplastic clavicle, Recurrent fractu... |
ORPHA:2769 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Complete duplication of thumb phalanx, Finger syndactyly,... |
ORPHA:568 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Wide mouth, Short philtrum, Everted lower lip vermilion, Thin up... |
ORPHA:2429 |
| Beck-Fahrner Syndrome |
|
Brachycephaly, High palate, Long philtrum, Hip dysplasia, Accelerated skeletal maturation, Joint ... |
OMIM:618798 |
| Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Skull asymmetry, High palate, Turricephaly, Wide anterior fontanel, Midface retrus... |
OMIM:601853 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Retrognathia, Cutis laxa, Hip dysplasia, Reduced subcutaneous adipose tissue, Camptodactyly, Hip ... |
OMIM:617403 |
| Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Patellar dislocation, Micrognathia, Skin ulcer, Prominent occiput, ... |
ORPHA:955 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Brachycephaly, Tapered finger, Clinodactyly of the 5th finger, Thin upper lip vermilion, Downturn... |
ORPHA:352530 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Delayed eruption of ... |
OMIM:112350 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Kyphosis, Frontal bossing, Adducted thumb, Joint hyperflexibility, Scoliosi... |
ORPHA:2181 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Short 5th finger, Plagiocephaly, Toe s... |
OMIM:610759 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Polyhydramnios, Flexion contracture, Micrognathia, Elbow flexion contracture, Hypoplasia of the m... |
ORPHA:2020 |
| Atelosteogenesis Type I |
|
Polyhydramnios, Absent or minimally ossified vertebral bodies, Joint dislocation, Thoracic hypopl... |
ORPHA:1190 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Mic... |
OMIM:258860 |
| Radio-Renal Syndrome |
|
Retrognathia, Abnormality of the elbow, Hypoplasia of the radius, Micrognathia, Micromelia, Pleur... |
ORPHA:3015 |
| Fibrous Dysplasia Of Bone |
|
Abnormal mandible morphology, Osteolysis, Abnormal zygomatic bone morphology, Abnormal rib morpho... |
ORPHA:249 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Micrognathia, Hip dislocation, Pectus excavatum, Congenital kyphoscoliosis,... |
ORPHA:536545 |
| Distal Monosomy 12Q |
|
Brachycephaly, 2-3 toe syndactyly, Micrognathia, Elbow flexion contracture, Median cleft lip, Ove... |
ORPHA:96149 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Dystonia, Optic atrophy, Frontal bossing |
OMIM:264470 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Brachycephaly, Genu valgum, High palate, Long philtrum, Hypoplastic fr... |
ORPHA:560 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, High palate, Lymphedema, Death in infancy, Ascites, Micrognathia, Narrow chest, M... |
OMIM:235255 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Increased number of skin folds, Cutis laxa |
ORPHA:436274 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, Tooth agenes... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, Tooth agenes... |
ORPHA:352665 |
| Au-Kline Syndrome |
|
Bifid tongue, Coxa valga, Plagiocephaly, Bifid uvula, Syringomyelia, Pectus excavatum, Overlappin... |
OMIM:616580 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hyperlordosis, Cerebral edema, Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Con... |
ORPHA:258 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Knee pain, Abnormal skeletal muscle morphology, Wrist pain, Abnormal auto... |
ORPHA:314652 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... |
ORPHA:2521 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Optic atrophy, Septo-optic dysplasia, Micrognathia, Missing ribs, Anal atresia, T... |
ORPHA:3301 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Biparietal narrowing, Hip dislocation, Pro... |
ORPHA:99776 |
| Jansen-De Vries Syndrome |
|
Hyperlordosis, Central diaphragmatic hernia, Parietal foramina, Small hand, Wide mouth, Thin uppe... |
OMIM:617450 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Flexion contracture, Coxa valga, Hernia, Thick lower lip ve... |
OMIM:230000 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Brachycephaly, High palate, Long philtrum, Micrognathia, Pectus excavatum, Short neck, Narrow mou... |
OMIM:156610 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Lack of skin elasticity, Flexion contracture, Micrognathia, Abnormal thorax morphology, Reduced s... |
ORPHA:1979 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Polyhydramnios, Plagiocephaly, Short lingual frenulum, Microdontia, Cl... |
OMIM:617360 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachycephaly, Microdontia, Micrognathia, Bifid uvula, Camptodactyly, Prominent occiput, Pectus e... |
OMIM:612474 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Enamel hypoplasia, Retrognathia, High palate, Selective tooth agenesis, Hypodon... |
OMIM:613823 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Polyhydramnios, Multiple joint contractures, Generalized amyotrophy, Mic... |
ORPHA:994 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hyperextensible skin |
OMIM:615937 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Vertebral segmentation defect, Hip dysplasia, Syringomyelia, Downturned corners of m... |
ORPHA:531151 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, High palate, Muscle fiber at... |
OMIM:616866 |
| Aicardi Syndrome |
|
Bifid ribs, Cleft upper lip, Optic atrophy, Block vertebrae, Spina bifida, Supernumerary ribs, Mi... |
OMIM:304050 |
| Lateral Meningocele Syndrome |
|
Micrognathia, Syringomyelia, Pectus excavatum, Short neck, Smooth philtrum, Prominent metopic rid... |
ORPHA:2789 |
| Chromosome 10Q26 Deletion Syndrome |
|
Toe syndactyly, Micrognathia, Pectus excavatum, 2-3 toe cutaneous syndactyly, Short neck, Radial ... |
OMIM:609625 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Ragged-red muscle fibers |
OMIM:616794 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Short philtrum, Prominent metopic ridge, Scoliosis, Cleft palate |
ORPHA:85317 |
| X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Unossified sacrum, Bell-shaped thorax, Thoracic... |
OMIM:608022 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Brachycephaly, Increased susceptibility to fractures, Sclerotic cranial sutures, Arthropathy, Pap... |
ORPHA:371428 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Metopic depression, Bell-shaped thorax, Natal tooth, Coronal craniosynostosis, Micrognathia, Midf... |
ORPHA:313855 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Tapered finger, Coxa valga, Kyphosis, Thick lower lip vermilion, Clinodact... |
OMIM:301040 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Gingivitis, Abnormal pigmentation of the oral mucosa, Finger syndactyly,... |
ORPHA:2907 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Plagiocephaly, Wide anterior fontanel, Pyloric stenosis, Submucous cl... |
ORPHA:457279 |
| Spondylo-Ocular Syndrome |
|
Hyperextensible skin, Long philtrum, Thoracic kyphosis, Abnormal intervertebral disk morphology, ... |
ORPHA:85194 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lack of skin elasticity, Kyphosis, Micrognathia, Lipodystrophy, Narrow mouth, Scoliosis, Loss of ... |
OMIM:615381 |
| Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Coxa vara, Kyphosis, Abnormality of the epiphysis... |
ORPHA:2114 |
| Trisomy 17P |
|
Flexion contracture, High palate, Tapered finger, Wide mouth, Thick vermilion border, Micrognathi... |
ORPHA:261290 |
| Camurati-Engelmann Disease |
|
Coxa valga, Optic atrophy, Delayed eruption of teeth, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
| Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Pterygium, L... |
OMIM:211350 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pedal edema, Elevated pulmonary artery pressure, Hemothorax, Pulmonary edema, Pericardi... |
ORPHA:199241 |
| Williams Syndrome |
|
Peptic ulcer, Colonic diverticula, Patellar dislocation, Hallux valgus, Microdontia, Increased bo... |
ORPHA:904 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin, Joint hyperflexibility |
ORPHA:35664 |
| Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Hypodontia, Micrognathia, Radioulnar synostosis, Hyp... |
OMIM:212780 |
| Flynn-Aird Syndrome |
|
Kyphosis, Skin ulcer, Skeletal muscle atrophy, Scoliosis, Carious teeth, Joint stiffness |
ORPHA:2047 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Plantar flexion contracture, Distal arthrogryposis, High palate, Wrist drop, Diaphragmatic eventr... |
OMIM:620011 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Upper limb hypertonia, Dystonia, Joint hyperflexibility, Pectus carinatum, Lower limb h... |
OMIM:614898 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, 2-3 toe syndactyly, High palate, Kyphosis, Short philtrum, Everted lower lip vermil... |
OMIM:616449 |
| Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Scaphocephaly, Kyphosis, Widely spaced teeth, Thick l... |
OMIM:309900 |
| Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Mandibular prognathia, Tapered finger, Long philtr... |
OMIM:601088 |
| Doors Syndrome |
|
Brachycephaly, Polyhydramnios, Short 5th finger, Optic atrophy, Short lingual frenulum, Prominent... |
ORPHA:79500 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Generalized amyotrophy, Proximal amyot... |
OMIM:615084 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Narrow maxilla, Joint dislocation, Hyperextensible skin, Hyperextensibility of the finger joints,... |
OMIM:130000 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Polyhydramnios, Scaphocephaly, Turricephaly, Death in infancy, Type 2 muscle fiber predominance, ... |
OMIM:619036 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Kyphosis, Tremor, Skeletal muscle hypertrophy,... |
ORPHA:99014 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Enamel hypoplasia, Increased variability in muscle fiber diameter, Muscle fiber splitting, Muscul... |
OMIM:226670 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Brachycephaly, High palate, Long philtrum, Optic atrophy, Downturned corners of mouth, Optic disc... |
OMIM:608027 |
| Dubowitz Syndrome |
|
Delayed cranial suture closure, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Metatars... |
ORPHA:235 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Brachycephaly, Polyhydramnios, Micrognathia, Posterior rib fusion, Butterfly vertebrae, Nonimmune... |
OMIM:265380 |
| Macular Degeneration, Age-Related, 3 |
|
Distal amyotrophy, Decreased nerve conduction velocity, Hyperextensible skin, Joint hypermobility |
OMIM:608895 |
| Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Toe syndactyly, Micrognathia, Midface retrusion, Elbo... |
OMIM:304120 |
| Triploidy |
|
Non-midline cleft lip, Polyhydramnios, Finger syndactyly, Wide mouth, Micrognathia, Macroglossia,... |
ORPHA:3376 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Retrognathia, Neurogenic bladder, Death in infancy, Micrognathia, Excessive wrinkled skin, Adduct... |
OMIM:608779 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, High palate, Congenital musc... |
OMIM:616470 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Muscle fiber atrophy |
ORPHA:369840 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Limb dystonia, Choreoathetosis, Type 1 muscle fiber predominance, Decreased nerv... |
ORPHA:319514 |
| 4Q21 Microdeletion Syndrome |
|
Short foot, Kyphosis, Small hand, Toe syndactyly, Short philtrum, Frontal bossing, Downturned cor... |
ORPHA:238750 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Wide anterior fontanel, Kyphosis, Micrognathia, Pectus excavatum, Frontal bossing,... |
OMIM:618272 |
| Saul-Wilson Syndrome |
|
Coxa valga, Micrognathia, Syringomyelia, Pectus excavatum, Hypoplasia of proximal fibula, Madelun... |
OMIM:618150 |
| Lowry-Maclean Syndrome |
|
Midgut malrotation, Talon cusp, Retrognathia, Delayed eruption of primary teeth, Craniosynostosis... |
ORPHA:2409 |
| Cornelia De Lange Syndrome |
|
Brachycephaly, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hip dislocation, Elbow di... |
ORPHA:199 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Upper limb postural tremor, Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
| Fg Syndrome Type 1 |
|
Plagiocephaly, Abnormal large intestine morphology, Micrognathia, Prominent occiput, Optic nerve ... |
ORPHA:93932 |
| Hallermann-Streiff Syndrome |
|
Brachycephaly, Recurrent fractures, Natal tooth, Short ribs, Small hand, Micrognathia, Clinodacty... |
ORPHA:2108 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... |
OMIM:619636 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Micrognathia, Abnormal vertebral morpholog... |
OMIM:239800 |
| White-Sutton Syndrome |
|
Brachycephaly, Ventral hernia, High palate, Optic atrophy, Short philtrum, Joint laxity, Midface ... |
ORPHA:468678 |
| Immunodeficiency 49 |
|
Cutis laxa, Natal tooth, Micrognathia, Short philtrum, Umbilical hernia, Wormian bones |
OMIM:617237 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Brachycephaly, Decreased muscle mass, Kyphosis, Lipoatrophy... |
ORPHA:349 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Brachycephaly, 2-3 toe syndactyly, High palate, Hernia, Short philtrum, Clinodactyly of the 5th f... |
ORPHA:3306 |
| Cardiac Valvular Dysplasia 2 |
|
Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmonary insufficiency, Heart mur... |
OMIM:620067 |
| 15Q Overgrowth Syndrome |
|
Micrognathia, Bifid uvula, Syringomyelia, Overlapping toe, Contracture of the proximal interphala... |
ORPHA:314585 |
| Noonan Syndrome 14 |
|
Polyhydramnios, Pectus carinatum, Long philtrum, Wide mouth, Kyphosis, Clinodactyly, Pectus excav... |
OMIM:619745 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Fatty replacement of skeletal mus... |
OMIM:620161 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Skull asymmetry, Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin ve... |
OMIM:612938 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Microdontia, Micrognathia, Abnormal optic disc morphology, Tibial deviation of the... |
ORPHA:363417 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal ri... |
OMIM:601076 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Pectus excavatum, Toe clinodactyly,... |
OMIM:619910 |
| Frontorhiny |
|
Camptodactyly of finger, Bifid tongue, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Sc... |
ORPHA:391474 |
| Synaptic Congenital Myasthenic Syndromes |
|
Abnormality of the knee, Mandibular prognathia, High palate, Limited wrist extension, Type 1 musc... |
ORPHA:98915 |
| Acrocraniofacial Dysostosis |
|
Triphalangeal thumb, Genu valgum, Tapered finger, Coxa valga, Short 1st metacarpal, Turricephaly,... |
ORPHA:949 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Abnormal metacarpal morphology, Abnorm... |
ORPHA:1307 |
| Chime Syndrome |
|
Brachycephaly, Aplastic clavicle, Short foot, Microdontia, Abnormality of dental morphology, Hypo... |
ORPHA:3474 |
| Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Tibial deviation of toes, Lumbar scoliosis, Kyphosis, 2-5 finger cutaneous... |
OMIM:609128 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Symphalangism affecting the phalanges of the hand, Long philtrum, Wide mouth, Bipa... |
ORPHA:1292 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Kinsship Syndrome |
|
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, Dislocated radial head, Sh... |
OMIM:619297 |
| Primrose Syndrome |
|
Brachycephaly, Flexion contracture, Midface retrusion, Torus palatinus, Metatarsus adductus, Pect... |
OMIM:259050 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Microdontia, Micrognathia, Clinodactyly of the 5th toe, Cl... |
ORPHA:221120 |
| Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Narrow chest, Abnormal rib morphology, Abnormal metaphysis... |
ORPHA:436 |
| Hypomandibular Faciocranial Dysostosis |
|
Brachycephaly, Polyhydramnios, Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, M... |
ORPHA:1790 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Abnormal iron deposition in mitoc... |
OMIM:255125 |
| Cowden Syndrome 5 |
|
Colonic diverticula, High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the max... |
OMIM:615108 |
| Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly, Camptodactyly, Short philtrum, Overlapping toe, Broad hallux, Syndactyly, Protrudin... |
OMIM:300963 |
| Menkes Disease |
|
Micrognathia, Prominent occiput, Pectus excavatum, Abnormal metaphysis morphology, Chondrocalcino... |
ORPHA:565 |
| Kleefstra Syndrome |
|
Brachycephaly, Mandibular prognathia, Hernia, Delayed eruption of teeth, Advanced eruption of tee... |
ORPHA:261494 |
| Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Micrognathia, Pectus excavatum, Short neck, Delayed skeletal maturation, Hyperext... |
OMIM:115150 |
| Distal Monosomy 3P |
|
Sacral dimple, Brachycephaly, High palate, Long philtrum, Micrognathia, Clinodactyly of the 5th f... |
ORPHA:1620 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Brachycephaly, Tapered finger, Widely spaced teeth, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:616728 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Optic atrophy, Abnormal mitochondria in muscle tissue, Increased intramyocel... |
OMIM:252011 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Flared iliac wing, Flat capital femoral epiphysis, Abnormal... |
OMIM:252605 |
| Noonan Syndrome With Multiple Lentigines |
|
Brachycephaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hyperextensible skin, Pectus... |
ORPHA:500 |
| 12Q14 Microdeletion Syndrome |
|
Hypodontia, Micrognathia, Clinodactyly of the 5th finger, Osteopoikilosis, Syringomyelia, Frontal... |
ORPHA:94063 |
| Renpenning Syndrome 1 |
|
Brachycephaly, Mandibular prognathia, High palate, Joint contracture of the hand, Micrognathia, S... |
OMIM:309500 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Intestinal malrotation, Congenital diaphragmatic ... |
OMIM:601163 |
| Galloway-Mowat Syndrome 7 |
|
Arachnodactyly, High palate, Hallux valgus, Micrognathia, Clinodactyly, Partial duplication of th... |
OMIM:618348 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Pectus excavatum, Thin upper lip v... |
ORPHA:314575 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Brachycephaly, Hyperextensible skin, High palate, Long philtrum, Wide mouth, Deep philtrum, Finge... |
ORPHA:1974 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Micrognathia, Inguinal hernia, Multiple unerupted teeth, ... |
ORPHA:2645 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplastic il... |
OMIM:313400 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Wide mouth, Thick lower lip vermilion, Broad alveo... |
OMIM:252940 |
| Acquired Methemoglobinemia |
|
Cyanosis, Syncope, Hypoxemia, Palpitations, Arrhythmia, Tachycardia |
ORPHA:464453 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Contractures of the large joints, Mandibular prognathia, Abnormal thumb morphology, Everted lower... |
ORPHA:324410 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Cleft upper lip, Bifid uvula, Scoliosis, Cleft palate |
OMIM:300958 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized amyotrophy, Opt... |
OMIM:258450 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Delayed skeletal maturation, Progressive intervertebral space narrowing,... |
ORPHA:480 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Submucous clef... |
ORPHA:2804 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Limb dystonia, Athetosis |
ORPHA:621 |
| Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Anterior wedging of T11, Long philtrum, Short 1st ... |
OMIM:164745 |
| Acrocraniofacial Dysostosis |
|
Oxycephaly, Short first metatarsal, Natal tooth, Short 1st metacarpal, Abnormal auditory evoked p... |
OMIM:201050 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Congenital diaphragmatic hernia, ... |
OMIM:616546 |
| Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy |
OMIM:307030 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Hydrops fetalis, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Fronta... |
OMIM:230500 |
| Acrofrontofacionasal Dysostosis 1 |
|
Brachycephaly, Cleft upper lip, Mandibular prognathia, Wide mouth, Optic atrophy, Short metacarpa... |
OMIM:201180 |
| Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, N... |
OMIM:227270 |
| Sheldon-Hall Syndrome |
|
High palate, Ulnar deviation of the wrist, Vertebral segmentation defect, Micrognathia, Ulnar dev... |
ORPHA:1147 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Tapered finger, Small hand, Cervical kyphosis, Short neck, Short clavicles |
ORPHA:401923 |
| Short Stature, Brussels Type |
|
Narrow chest, Calcification of cartilage, Microretrognathia, Delayed epiphyseal ossification |
ORPHA:2867 |
| Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Optic atrophy, Toe syndactyly, Bifid uvula, Abnormal... |
OMIM:200990 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Vertebral wedging, Missing ri... |
OMIM:617866 |
| Warburg Micro Syndrome 4 |
|
Brachycephaly, Flexion contracture, Decreased muscle mass, Long philtrum, Optic atrophy, Decrease... |
OMIM:615663 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... |
ORPHA:1106 |
| Noonan Syndrome 2 |
|
Polyhydramnios, Abnormal sternum morphology, Hyperextensible skin, High palate, Palmoplantar cuti... |
OMIM:605275 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Congenital diaphragmatic hernia, Micrognathia |
OMIM:615524 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging of the costochondral junction, Delayed eruption of teeth, Fibular bowing, Delayed epiphys... |
OMIM:264700 |
| Cerebrocostomandibular Syndrome |
|
Bell-shaped thorax, Kyphosis, Death in infancy, Spina bifida, Micrognathia, Clinodactyly of the 5... |
ORPHA:1393 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Brachycephaly, Hyperextensible skin, Tapered finger, Plagiocephaly, Natal tooth, Thick lower lip ... |
ORPHA:261652 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Long philtrum, Hypoplastic ilia, Short ribs, Hypoplasia of ... |
OMIM:617895 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Lower limb muscle weakness, Tongue atrophy, Optic atrophy, Decrea... |
ORPHA:99956 |
| Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Blepharochalasis, Cutis laxa, Tongue atroph... |
ORPHA:85448 |
| Cowden Syndrome 6 |
|
Colonic diverticula, High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the max... |
OMIM:615109 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... |
OMIM:602111 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Paroxysmal choreoathetosis, Ragged-red muscle fibers, Lingual dystonia |
OMIM:500003 |
| Marfan Syndrome |
|
Micrognathia, Pectus excavatum, Abnormal zygomatic bone morphology, Cleft palate, Protrusio aceta... |
ORPHA:558 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal mitochondrial shape... |
ORPHA:17 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Internal hemorrhage, Bruising susceptibility, Opisthotonus, Ta... |
ORPHA:335 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:613327 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Kyphosis, Micrognathia, Inguinal hernia, Contracture of the distal inter... |
OMIM:607015 |
| Occipital Horn Syndrome |
|
Delayed cranial suture closure, Coxa valga, Large iliac wing, Scarring, Hip dislocation, Abnormal... |
ORPHA:198 |
| Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Abnormality of the philtrum, Brachycephaly, Mandibular prognathia, Plagiocep... |
ORPHA:2673 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregularity, Shor... |
OMIM:250420 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Optic atrophy, Neuropathic spinal arthropathy, Tongue atrophy, De... |
ORPHA:99949 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal upper limb amyotroph... |
ORPHA:600 |
| Williams-Beuren Syndrome |
|
Flexion contracture, Colonic diverticula, Hallux valgus, Microdontia, Midface retrusion, Pectus e... |
OMIM:194050 |
| Baralle-Macken Syndrome |
|
Striae distensae, Tapered finger, Kyphosis, High, narrow palate, Dystonia |
OMIM:619255 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Non-midline cleft lip, Lip pit, Finger syndactyly, Toe syndactyly, Micrognath... |
ORPHA:1300 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Limb-girdle muscle weakness, Tongue atrophy, Distal amyotrophy, Upper limb muscle weakness, Lower... |
ORPHA:466768 |
| Harrod Syndrome |
|
Dental malocclusion, High palate, Kyphosis, Abnormal pelvic girdle bone morphology, Narrow mouth,... |
ORPHA:2115 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Death in infancy, Adducted thumb,... |
OMIM:619334 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Everted upper lip vermilion, Deep philtrum, Kyphosis... |
OMIM:619951 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Kyphosis, Scoliosis, Joint contracture of the 5th finger, Arachnodactyly... |
ORPHA:1883 |
| Restrictive Dermopathy 2 |
|
Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Rectal prolapse, Intrauter... |
OMIM:619793 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Limb tremor |
OMIM:300699 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Retrognathia, Broad femoral neck, Small hand, Distal shortening of limbs, Spina bifida occulta, T... |
ORPHA:488434 |
| Opitz-Kaveggia Syndrome |
|
Delayed closure of the anterior fontanelle, Plagiocephaly, Multiple joint contractures, Micrognat... |
OMIM:305450 |
| Pfeiffer Syndrome |
|
Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ... |
OMIM:101600 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Enlarged Parietal Foramina |
|
Parietal foramina, Broad thumb, Cleft lip, Short clavicles, Cleft palate, Craniosynostosis |
ORPHA:60015 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Brachycephaly, Tapered finger, Long philtrum, Small hand, Hip dysplasia, Bifid uvu... |
OMIM:300968 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Anal atresia, Intrauterine growth retardation |
ORPHA:195 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Brachycephaly, Narrow palate, Kyphosis, Contracture of the proximal interphalangeal joint of the ... |
OMIM:618223 |
| Iniencephaly |
|
Hyperlordosis, Polyhydramnios, Spinal dysraphism, Mandibular aplasia, Rhizomelia, Spina bifida, A... |
ORPHA:63259 |
| Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Abnormality of the knee, Hydrops fetalis, Stippled calcification of the shoulder,... |
ORPHA:51608 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Kyphosis, Macroglossia, Prominent metopic ridge, Everted lower lip vermili... |
ORPHA:261144 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Optic atrophy, Reduced subcutaneous adipose tissue, ... |
ORPHA:3455 |
| O'Donnell-Luria-Rodan Syndrome |
|
Dolichocephaly, Tapered finger, Kyphosis |
OMIM:618512 |
| Zimmermann-Laband Syndrome 2 |
|
Deep philtrum, Kyphosis, Macroglossia, Short neck, Gingival overgrowth, Thick vermilion border |
OMIM:616455 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Lower limb muscle weakness, Kyphosis, Hand tremor, Head tremor, Scoliosis, Limb mus... |
OMIM:614409 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Tongue atrophy, Limb dystonia, Focal dystonia, Tremor, Oromandibular dystonia |
ORPHA:216873 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Multiple impacted teeth, Short metatarsal, Straight clavicles, T... |
OMIM:113300 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, T... |
ORPHA:1329 |
| Down Syndrome |
|
Hypoplastic iliac wing, Brachycephaly, Short middle phalanx of the 5th finger, Aganglionic megaco... |
OMIM:190685 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Polyhydramnios, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral... |
OMIM:615633 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Long philtrum, Abnormal large intestine morphology, Lymphedema, Micrognathia, Doli... |
ORPHA:109 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Median cle... |
ORPHA:2753 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... |
OMIM:277170 |
| 16P13.2 Microdeletion Syndrome |
|
Brachycephaly, Flexion contracture, Plagiocephaly, Small hand, Kyphosis, Hip dysplasia, Scoliosis... |
ORPHA:500055 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Brachycephaly, Polyhydramnios, Redundant neck skin, Short neck, Tethered cord, Thin vermilion bor... |
OMIM:617157 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormality of the elbow, Kyphosis, Finger syndactyly, Turricephaly, Vertebral segmentation defec... |
ORPHA:1005 |
| Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Optic atrophy, Delayed eruption of teeth, Toe synd... |
OMIM:305600 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ankle clonus, Kyphosis, Tongue atrophy, Hand muscle atrophy, Cranial nerve motor loss, Scoliosis,... |
OMIM:211530 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Pierre-Robin sequence, Wide anterior fontanel, Hernia, Micrognathia, Clinodactyly, Tracheomalacia... |
OMIM:217980 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Difficulty in tongue movements, Spasticity of facial muscles, Opisthotonus, Distal l... |
OMIM:205100 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Optic atrophy, Toe syndactyly, Micrognathia, Taur... |
ORPHA:2710 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Genu valgum, High palate, Long philtrum, Kyphosis, Short ... |
OMIM:618443 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular vertebral endplates, Irreg... |
OMIM:187760 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Flat capital femoral epiphysis, Metaphyseal striations, Midface retrusion, Lumbar interpedicular ... |
OMIM:271510 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Polyhydramnios, Diastasis recti, Plagiocephaly, Long philtrum, Wide anterior fontanel, Micrognath... |
OMIM:618548 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Weakness of facial musculature, Myopathy, Ragged-red muscle fibers |
OMIM:616239 |
| Barber-Say Syndrome |
|
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Widely spaced teeth, Delayed... |
OMIM:209885 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Brachycephaly, Delayed closure of the anterior fontanelle, Short 5th fin... |
OMIM:607872 |
| Desanto-Shinawi Syndrome |
|
Brachycephaly, Midface retrusion, Thin upper lip vermilion, Downturned corners of mouth, Short neck |
OMIM:616708 |
| Crouzon Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Mandibular prognathia, High palate, Abnormality of the ... |
OMIM:123500 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Prominent occiput, ... |
ORPHA:2636 |
| 2Q37 Microdeletion Syndrome |
|
Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Small hand, Pyloric stenosis, Cl... |
ORPHA:1001 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Brachycephaly, Mandibular prognathia, Anal atresia |
ORPHA:93950 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Bell-shaped thorax, Kyphosis, Optic atrophy, Erlenmeyer flask deformity of the femurs, Increased ... |
OMIM:618476 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, High palate, Prominent crus of helix, Tapered finger, Joint hypermobility,... |
OMIM:617804 |
| Treacher-Collins Syndrome |
|
Brachycephaly, Blepharospasm, Micrognathia, Midface retrusion, Tooth agenesis, Abnormality of bon... |
ORPHA:861 |
| Adenylosuccinase Deficiency |
|
Brachycephaly, Long philtrum, Wide mouth, Thin upper lip vermilion, Skeletal muscle atrophy, Smoo... |
OMIM:103050 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
2-3 toe syndactyly, Eruption failure, Aplasia of the 1st metacarpal, High palate, Long philtrum, ... |
ORPHA:476126 |
| Halperin-Birk Syndrome |
|
Flexion contracture, High palate, Optic atrophy, Micrognathia, Hip dislocation, Congenital diaphr... |
OMIM:618651 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retrognathia, Brachycephaly, Tooth malposition, High palate, Recurrent fractures, Prominent float... |
ORPHA:2785 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left... |
ORPHA:99104 |
| Seckel Syndrome 10 |
|
Slender long bone, Cone-shaped epiphysis, Metaphyseal widening, Microretrognathia |
OMIM:617253 |
| Hypomelanosis Of Ito |
|
Kyphosis, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Syndactyly, Radial deviation... |
OMIM:300337 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Ankylosis, Nar... |
OMIM:602483 |
| Specific Granule Deficiency 2 |
|
Conical tooth, Hyperextensible skin, Death in infancy, Sandal gap, Osteopenia, Brachydactyly, Ame... |
OMIM:617475 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Kyphosis, Frontal bossing, Skeletal muscle atrophy, Thoracic scoliosis,... |
OMIM:603387 |
| 1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Brachycephaly, Abnormality of the anus, ... |
ORPHA:1606 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Brachycephaly, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Smooth phil... |
OMIM:618828 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Wide mouth, Widely spaced teeth, Kyphosis, Short philtrum, Joint laxity, Left vent... |
OMIM:300967 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Thoracic hypoplasia, Micrognathia, Abnormal optic disc morphology, Early ossification of capital ... |
ORPHA:397715 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Short metatarsal, Brachycephaly, Short metacarpal, Midface re... |
OMIM:600430 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Polyhydramnios, Rhizomelia, Short ribs, Hypoplasia of the radius, Short philtrum, Bu... |
OMIM:607143 |
| Craniosynostosis 6 |
|
Delayed cranial suture closure, Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Ri... |
OMIM:616602 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Retrognathia, Down-sloping shoulders, Lipodystrophy, Osteopenia, Short clavicles |
OMIM:212112 |
| Neuronopathy, Distal Hereditary Motor, Type X |
|
Tendon rupture, Joint hypermobility, Decreased compound muscle action potential amplitude, Small ... |
OMIM:620080 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Joint stiffness, Joint laxity, Cutis laxa, Thick vermilion border |
OMIM:314400 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Micromelia, Oligo... |
OMIM:251230 |
| Orofaciodigital Syndrome Type 1 |
|
Lip pit, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Odontogenic neoplasm, Cleft ... |
ORPHA:2750 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Abnormality of... |
ORPHA:860 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Micrognathia, Abnormal thorax morphology, Camptodactyly, Midface retru... |
ORPHA:798 |
| Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Absent thumb, High palate, Adenocarcinoma of the colon, Cleft soft palate, A... |
ORPHA:124 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Optic nerve hypoplasia, Spina bifida o... |
OMIM:618736 |
| Xq28 (MECP2) duplication |
|
Brachycephaly, Malar flattening, Narrow mouth, Death in childhood |
DECIPHER:45 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Retrocollis, Lower-limb joint contracture, Muscle fiber atrophy, Opisthotonus, Axial dystonia, Sk... |
ORPHA:300605 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Flexion contracture, Hip contracture, Irregular vertebral endplates, Kyphosis, Posterior scallopi... |
ORPHA:3042 |
| Autosomal Dominant Cutis Laxa |
|
Delayed cranial suture closure, Hyperextensible skin, Hernia, Cutis laxa, Dermal translucency, Pr... |
ORPHA:90348 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Prominent occiput,... |
OMIM:210710 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Brachycephaly, Cutis laxa, Dry skin, Optic atrophy |
OMIM:612379 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
High palate, Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscle atrophy, Type... |
OMIM:601462 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Ankle clonus, Lower limb muscle weakness, Type 1 ... |
OMIM:613954 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Brachycephaly, Hyperlordosis, Narrow palate, High palate, Long philtrum, Cutaneous finger syndact... |
OMIM:616078 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly, Downturned corners of mouth, Deep philtrum |
OMIM:618859 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Thoracic hypoplasia, Short long bone, Micrognathia, Anisospondyly, Pterygium, Narrow mouth, Micro... |
OMIM:224410 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Microdontia, Synostosis of carpal bones, Micrognathia, Inguinal hernia, Short neck, Sco... |
ORPHA:3191 |
| Acrogeria |
|
Small hand, Micrognathia, Skin ulcer, Joint hyperflexibility, Scoliosis, Lipoatrophy, Short foot,... |
ORPHA:2500 |
| Craniolenticulosutural Dysplasia |
|
Delayed closure of the anterior fontanelle, Optic atrophy, Delayed eruption of teeth, Bifid uvula... |
OMIM:607812 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Narrow palate, Jejunal atresia, T... |
OMIM:612949 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:85329 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Micrognathia, Clinodactyly of the 5th finger, Intestinal malrotation, Short neck, B... |
ORPHA:2001 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
| Masa Syndrome |
|
Adducted thumb, Hyperlordosis, Kyphosis |
OMIM:303350 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis, Erythema, Joint stiffness, Dry skin, Abnormal dental enamel morphology |
ORPHA:816 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, Contractures of the large joints, Long philtrum, Wide mouth, Micrognathia, Hip disl... |
ORPHA:96092 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Macroglossia |
ORPHA:412217 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ar... |
OMIM:184100 |
| Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, 2-3 toe syndactyly, Brachycephaly, Hallux valgus, Delayed eruption of te... |
OMIM:614188 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Coxa valga, Micrognathia, Bifid uvula, Irregular distal femoral epiphy... |
OMIM:154780 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Polyhydramnios, High palate, Long philtrum, Micrognathia, Choreoathetosis, Anal at... |
OMIM:614080 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm... |
OMIM:608670 |
| Cantú Syndrome |
|
Coxa valga, Long philtrum, Wide mouth, Finger syndactyly, Narrow chest, Cuboid-shaped vertebral b... |
ORPHA:1517 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Kyphosis, Optic atrophy, Micrognathia, Dolichocephaly, Inflammation of ... |
OMIM:619708 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
| Cowden Syndrome 1 |
|
Colonic diverticula, High palate, Kyphosis, Micrognathia, Pectus excavatum, Hypoplasia of the max... |
OMIM:158350 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Anteriorly placed anus, Abnormal vertebral morphology |
ORPHA:280195 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Patellar dislocation, Delayed eruption of teeth, Micrognathia, Taurodontia, Hip dislo... |
ORPHA:534 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... |
OMIM:174300 |
| Prader-Willi Syndrome |
|
Polyhydramnios, Radial deviation of finger, Short palm, Genu valgum, Hip dysplasia, Dolichocephal... |
OMIM:176270 |
| Macrocephaly/Autism Syndrome |
|
High palate, Long philtrum, Cutis laxa, Biparietal narrowing, Midface retrusion, Joint laxity, Fr... |
OMIM:605309 |
| Moderate Hemophilia A |
|
Cartilage destruction, Hip contracture, Arthropathy, Synovitis, Limitation of joint mobility, Joi... |
ORPHA:169805 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Broad ribs, Short ribs, Short long bone, Irregular carpal bones, Carpal bo... |
OMIM:252600 |
| Asbestos Intoxication |
|
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Edema, Right ventricular failure, Hepatojug... |
ORPHA:2302 |
| D-Bifunctional Protein Deficiency |
|
Delayed cranial suture closure, Polyhydramnios, Retrognathia, Decreased muscle mass, High palate,... |
OMIM:261515 |
| Williams-Beuren Region Duplication Syndrome |
|
Brachycephaly, High palate, Micrognathia, Short philtrum, Diastema |
OMIM:609757 |
| Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
| Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Pterygium, Osteoporosis, Scoliosis, Platyspondyly, Joint stiffness... |
ORPHA:2771 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Redundant skin, Joint hyperflexibility, Malar flattening, Open mouth, Athe... |
ORPHA:52503 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Genu valgum, Mandibular prognathia, Coxa vara, Short metacarpal, Rhizomelia, Brach... |
ORPHA:2831 |
| Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Coxa valga, Toe syndactyly, Smooth philtrum, Cleft palate, Short palm, N... |
ORPHA:261330 |
| Mucopolysaccharidosis Type 3 |
|
Umbilical hernia, Increased susceptibility to fractures, Genu valgum, Flexion contracture, Reduce... |
ORPHA:581 |
| Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,... |
ORPHA:90322 |
| Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Optic atrophy, Hypoplastic vertebral bodies, Protruding tongue, Narrow mouth, Scolios... |
OMIM:230600 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Hyperalaninemia, Abdominal pain, Elevated hepatic transaminase, Abnormalit... |
ORPHA:298 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue, Facial palsy |
ORPHA:2743 |
| Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Small hand, Bifid uvula, Frontal ... |
OMIM:618779 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Otosclerosis, Optic atrophy, Tempor... |
ORPHA:217085 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Short thorax, Kyphosis, Short philtrum, Spina bifida occulta, Downturned corners of ... |
ORPHA:2983 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Short philtrum, Dolichocephaly, High, narrow palate |
OMIM:615433 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Genu varum, Finger syndactyly, Kyphosis, Pectus excavatum, Skeletal muscle atrophy, Scoliosis, As... |
ORPHA:1969 |
| Noonan Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Enlarged thorax, High palate, Lymphedema, T... |
ORPHA:648 |
| Pentalogy Of Cantrell |
|
Non-midline cleft lip, Abnormal sternum morphology, Congenital diaphragmatic hernia, Abnormality ... |
ORPHA:1335 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Otosclerosis, Optic atrophy, Tempor... |
ORPHA:217093 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Brachycephaly, Coronal craniosynostosis, Oligodontia, Abnormal metacarpal morphology, Hypoplasia ... |
ORPHA:2095 |
| Mend Syndrome |
|
Sacral dimple, 2-3 toe syndactyly, High palate, Wide anterior fontanel, Kyphosis, Limb hypertonia... |
ORPHA:401973 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Hypoplastic iliac wing, Cleft upper lip, Genu valgum, Natal tooth, Delayed erupt... |
OMIM:225500 |
| Chiari Malformation Type Ii |
|
Cyanosis, Myelomeningocele, Spina bifida, Cervical myelopathy, Opisthotonus |
OMIM:207950 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Distal shortening of limbs, Postaxial hand... |
OMIM:146510 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
High palate, Kyphosis, Micrognathia, Clinodactyly, Short philtrum, Midface retrusion, Pectus exca... |
OMIM:609944 |
| Developmental And Epileptic Encephalopathy 100 |
|
Enamel hypoplasia, Bilateral camptodactyly, High palate, Small hand, Microdontia, Elbow flexion c... |
OMIM:619777 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Delayed closure of the anterior fontanelle, Microdontia, Micrognathia, Delayed skeletal maturatio... |
ORPHA:96182 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Polyhydramnios, Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Atrophy of the... |
ORPHA:86822 |
| Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna,... |
ORPHA:3344 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Gingival recession, Intestinal perforation, Arachnodactyly, Alveolar bone loss around teeth, Join... |
OMIM:130080 |
| Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Diastasis recti, Mandibular prognathia, Otosclerosis, Wide mouth, Large intestina... |
ORPHA:116 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Skeletal... |
OMIM:615418 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Kleefstra Syndrome 2 |
|
Plagiocephaly, Kyphosis, Bifid uvula, Midface retrusion, Everted lower lip vermilion, Scoliosis |
OMIM:617768 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Camptodactyly, Midface retrusion, Broad hallux, Smooth philtrum, Cleft palate, Hi... |
OMIM:301044 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Ankle clonus, Flexion contracture, Kyphosis, Optic atrophy, Scolios... |
OMIM:609541 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Pectus excavatum |
OMIM:619699 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy, Pallor |
OMIM:613561 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hip subluxation, Short tibia, Short phalanx of finger, Cleft mandible, Short 5th finger, Cleft lo... |
OMIM:268305 |
| Megalocornea-Intellectual Disability Syndrome |
|
Metatarsus valgus, Genu varum, High palate, Tapered finger, Kyphosis, Micrognathia, Short philtru... |
ORPHA:2479 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, High palate, Colonic diverticula, Kyphosis, Thick lower lip vermilion, Aganglionic... |
OMIM:162300 |
| Laurence-Moon Syndrome |
|
Brachycephaly, Hand polydactyly, Finger syndactyly, Brachydactyly |
ORPHA:2377 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Genu valgum, Mandibular prognathia, Hip contracture, Finger joint hypermobility, Kyphosis, Optic ... |
OMIM:618493 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Increased susceptibility to fractures, Hyperextensible skin, Long... |
ORPHA:357058 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Skull asymmetry, Plagiocephaly, Hallux valgus, Toe... |
OMIM:101400 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
| Lig4 Syndrome |
|
Brachycephaly, Malabsorption, Micrognathia, Biparietal narrowing, Clinodactyly of the 5th finger,... |
ORPHA:99812 |
| Marinesco-Sjögren Syndrome |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus... |
ORPHA:559 |
| Mogs-Cdg |
|
Retrognathia, Polyhydramnios, High palate, Pulmonary edema, Optic atrophy, Absent brainstem audit... |
ORPHA:79330 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender long bones with narrow diaphyses, Dense metaphyseal bands, Generalized lipodystrophy, Ost... |
ORPHA:50811 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Myopathy |
ORPHA:369847 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Delayed cranial suture closure, Lack of skin elasticity, Hernia, Wide anterior fontanel, Cutis la... |
ORPHA:90349 |
| Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Small hand, Kyphosis, Tremor, Scoliosis, Short foot, Dystonia |
OMIM:617435 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Pectus carinatum, Limb hypertonia, Kyphosis |
ORPHA:500180 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Micromelia, Abnorm... |
ORPHA:2772 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachycephaly, Coxa valga, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic vertebral b... |
ORPHA:2163 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Distal Monosomy 15Q |
|
Genu valgum, Bifid tongue, Generalized joint laxity, Small hand, Micrognathia, Short finger, Shor... |
ORPHA:1596 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... |
ORPHA:2234 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Plagiocephaly, Long philtrum, Ulnar deviation of ... |
ORPHA:1101 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Eclabion, Dry skin, Cutis laxa |
ORPHA:2269 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, Brachyturricephaly, Broad proximal phalanges of the hand, Optic nerve hypoplasia... |
OMIM:607597 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Micrognathia, Bifid uvula, Midface retrusion, Congenital diaphragmatic hernia, Cleft palate |
OMIM:606164 |
| Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Femoral retroversion, Pectus excavatum, Multiple prenatal fractur... |
OMIM:610682 |
| Axenfeld-Rieger Syndrome |
|
Microdontia, Hypodontia, Midface retrusion, Everted lower lip vermilion, Hypoplasia of the maxill... |
ORPHA:782 |
| Pfeiffer Syndrome Type 1 |
|
Brachycephaly, Aplasia/Hypoplasia of the thumb, High palate, Short foot, Finger syndactyly, Toe s... |
ORPHA:93258 |
| Aspergillosis |
|
Osteomyelitis, Abnormal long bone morphology, Pleural effusion, Sinusitis, Abnormal esophagus mor... |
ORPHA:1163 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Dystonia, Atrioventricular block, Bradycardia, Intention tremor |
OMIM:614407 |
| Brittle Cornea Syndrome |
|
Increased susceptibility to fractures, Hyperextensible skin, Hernia, Hallux valgus, Hip dysplasia... |
ORPHA:90354 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, High palate, Narrow chest, Micrognathia, Midface retrusion, Redundant neck skin, ... |
ORPHA:1655 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Humeroradial synostosis, Oligodactyly, Arachnodactyly, Craniosynostosis |
OMIM:614416 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Micrognathia, Mesoaxial polydact... |
ORPHA:2754 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Hyperextensible skin, Striae distensae, Atrophic scars, Increased connect... |
OMIM:606408 |
| Limb Body Wall Complex |
|
Thoracoabdominal wall defect, Diastasis recti, Thoracic hypoplasia, Ventral hernia, Cutaneous fin... |
ORPHA:2369 |
| Oculogastrointestinal Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:1876 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Microdontia, Midface retrusion, Pectus excavatum, Everted lower lip ... |
OMIM:615873 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Primary Lateral Sclerosis, Juvenile |
|
Difficulty in tongue movements, Spasticity of facial muscles, Pallor, Decreased compound muscle a... |
OMIM:606353 |
| Eosinophilic Fasciitis |
|
Edema, Muscular edema, Acrocyanosis |
ORPHA:3165 |
| Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Micrognathia, Supernumerary ribs, Congenital diaphragmatic hernia,... |
OMIM:613309 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Foot polydactyly, Bifid thoracic vertebrae, Micrognathia, Tracheoesophageal fist... |
ORPHA:268249 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of the costochondral... |
OMIM:600081 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
| 16Q24.3 Microdeletion Syndrome |
|
High palate, Long philtrum, Wide mouth, Kyphosis, Hip dysplasia, Micrognathia, Biparietal narrowi... |
ORPHA:261250 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Plagiocephaly, Wide mouth, Submucous cleft hard palate, Joint hypermobility, Inguina... |
OMIM:618106 |
| Atrioventricular septal defect 3 |
|
Cyanosis, Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart fai... |
OMIM:600309 |
| Neurofibromatosis Type 1 |
|
Genu varum, Genu valgum, Multiple lipomas, Recurrent fractures, Kyphosis, Slender long bone, Abno... |
ORPHA:636 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Flexion contracture, Spinal muscu... |
OMIM:616867 |
| Brachyolmia Type 3 |
|
Short femoral neck, Kyphosis, Clinodactyly, Barrel-shaped chest, Proximal femoral metaphyseal irr... |
OMIM:113500 |
| Atelosteogenesis Type Iii |
|
Short tibia, Polyhydramnios, Thoracic hypoplasia, Patellar dislocation, Abnormal cervical curvatu... |
ORPHA:56305 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Polyhydramnios, Postaxial polydactyly, Short ribs, Short long bone, Hypodontia, ... |
OMIM:617088 |
| Ring Chromosome 7 Syndrome |
|
Brachycephaly, Genu valgum, Mandibular prognathia, Short 5th finger, Prominent crus of helix, Sma... |
ORPHA:1449 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Plagiocephaly, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Joint c... |
OMIM:280000 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Brachycephaly, Polyhydramnios, Optic nerve dysplasia, Plagiocephaly, Limb hypertonia, Short philt... |
OMIM:617296 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, High palate, Narrow palate, Long philtrum, Proboscis, Optic nerve hypoplasia, Fron... |
OMIM:605627 |
| Trisomy 10P |
|
Retrognathia, Short toe, Contracture of thumb, Decreased muscle mass, High palate, Abnormal hip j... |
ORPHA:171929 |
| Singleton-Merten Syndrome 1 |
|
Hip subluxation, Osteolytic defects of the phalanges of the hand, Coxa valga, Muscle fiber atroph... |
OMIM:182250 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Genu varum, Increased susceptibility to fractures, Enlargement of the costocho... |
ORPHA:289157 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Conical tooth, Brachycephaly, Coronal craniosynostosis, Oligohydramnios, Frontal bossing, Calvari... |
ORPHA:228390 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate... |
OMIM:300990 |
| Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Co... |
ORPHA:444013 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge, Broad hallux, Duplication of phalanx of ... |
OMIM:617127 |
| Fibromuscular Dysplasia, Multifocal |
|
Hyperextensible skin, High palate, Striae distensae, Dermal translucency, Micrognathia, Atrophic ... |
OMIM:619329 |
| Rett Syndrome |
|
Kyphosis, Skeletal muscle atrophy, Scoliosis, Short foot, Dystonia, Abnormality of the dentition |
OMIM:312750 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Malabsorption, Ragged-red muscle fibers, Intestinal pseudo-obstruction |
OMIM:613662 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short foot, Wide mouth, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Laryngotrac... |
OMIM:618454 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Short 5th toe, Polydactyly, Retrognathia, Tapered finger, Cleft soft palate, Kypho... |
ORPHA:268261 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Opisthotonus |
OMIM:250800 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Brachycephaly, Metaphyseal irregularity, Irregular vertebral endplates, Advanced ossification of ... |
OMIM:610442 |
| Mucolipidosis Type Ii |
|
Knee flexion contracture, Diastasis recti, Hip contracture, Abnormal long bone morphology, Kyphos... |
ORPHA:576 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Hernia, Dolichocephaly, Everted lower lip vermilio... |
OMIM:252930 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:713 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, High palate, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxi... |
ORPHA:66625 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Long philtrum, Kyphosis, Hip dysplasia, Short digit, Prominent protruding coccyx, ... |
OMIM:300966 |
| Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
| Holoprosencephaly |
|
Spinal dysraphism, Optic atrophy, Median cleft lip, Short neck, Tooth agenesis, Intestinal atresi... |
ORPHA:2162 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Brachycephaly, Skeletal muscle fibrosis, Achilles tendon contracture, Hip dislocation, Midface re... |
OMIM:616263 |
| Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Pectus excavatum, Tented upper lip vermilion, Congenital diaphragmatic hernia, S... |
OMIM:614294 |
| Cog1-Cdg |
|
Pierre-Robin sequence, High palate, Long philtrum, Coxa valga, Short long bone, Vertebral segment... |
ORPHA:263508 |
| Werner Syndrome |
|
Lack of skin elasticity, Small hand, Increased bone mineral density, Abnormal thorax morphology, ... |
ORPHA:902 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Marfan Syndrome |
|
Flexion contracture, Micrognathia, Reduced subcutaneous adipose tissue, Incisional hernia, Campto... |
OMIM:154700 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S... |
OMIM:184253 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck |
ORPHA:2578 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis, Ecchymosis, Edema, Gingival bleeding, Erythema, Angioedema |
ORPHA:449285 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Myopathy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy |
ORPHA:2348 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Esophageal atresia, Supernumerary ribs, Missing ribs, But... |
OMIM:206900 |
| Roberts-Sc Phocomelia Syndrome |
|
Brachycephaly, Wrist flexion contracture, Polyhydramnios, Absent thumb, Tetraphocomelia, Elbow fl... |
OMIM:268300 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Widely patent fontanelles and sutures, Parietal foramina, Short clavicles |
OMIM:168550 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy |
ORPHA:363400 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Wide mouth, Toe syndactyly, Microdontia, Hypoplasia of the maxilla, Redu... |
ORPHA:920 |
| Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Congenital diaphragmatic hernia, Natal tooth |
ORPHA:99811 |
| Auriculocondylar Syndrome |
|
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... |
ORPHA:137888 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, 2-3 toe syndactyly, Short philtrum, Clinodactyly of the 5th finger, Thin upper ... |
OMIM:613443 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Gingivitis, Esophageal stricture, Flexion contracture, Abnormality of th... |
ORPHA:2908 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
| Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis, Intracranial hemorrhage, Internal hemorrhage, Shock |
ORPHA:49566 |
| Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening |
OMIM:613857 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy |
ORPHA:42 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:604377 |
| Lymphangiectasia, Intestinal |
|
Pedal edema, Prominent floating ribs, Malabsorption, Edema, Stillbirth, Intestinal lymphangiectasia |
OMIM:152800 |
| Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
| Lethal Congenital Contracture Syndrome 9 |
|
Polyhydramnios, Micrognathia, Ankylosis, Adducted thumb, Thin upper lip vermilion, Myopathy, Scol... |
OMIM:616503 |
| Kabuki Syndrome |
|
Vertebral clefting, Lip pit, High palate, Short 5th finger, Small hand, Widely spaced teeth, Micr... |
ORPHA:2322 |
| Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Kyphosis, Hyperextensibility of the finger joints, Scoliosis, Arachnodacty... |
OMIM:609008 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Edema, Neonatal death, Redundant neck skin, Brachydactyly |
OMIM:610498 |
| Hyperkalemic Periodic Paralysis |
|
Myopathy, Flexion contracture, Skeletal muscle atrophy, Skeletal muscle hypertrophy |
ORPHA:682 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Short toe, Kyphosis, Keloids, Delayed skeletal maturation, Brachydactyly, Dry skin |
ORPHA:3085 |
| Codas Syndrome |
|
Short phalanx of finger, Polyhydramnios, Delayed eruption of teeth, Delayed skeletal maturation, ... |
OMIM:600373 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Cl... |
ORPHA:364577 |
| Warburg Micro Syndrome 2 |
|
Brachycephaly, Flexion contracture, Clinodactyly of the 4th toe, Optic atrophy, Clinodactyly of t... |
OMIM:614225 |
| Congenital Disorder Of Deglycosylation 1 |
|
Brachycephaly, Small hand, Midface retrusion, Decreased sensory nerve conduction velocity, Atheto... |
OMIM:615273 |
| Autosomal Dominant Omodysplasia |
|
Patellar dislocation, Long philtrum, Short 1st metacarpal, Rhizomelia, Micrognathia, Elbow disloc... |
ORPHA:93328 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal musc... |
ORPHA:79083 |
| Hydrolethalus |
|
Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard pal... |
ORPHA:2189 |
| Sponastrime Dysplasia |
|
Hip subluxation, Microdontia, Flat capital femoral epiphysis, Hip dislocation, Ivory epiphyses of... |
ORPHA:93357 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Short middle phalanx of the 2nd finger, Micr... |
OMIM:136140 |
| Noonan Syndrome 8 |
|
Polyhydramnios, Abnormal sternum morphology, Hyperextensible skin, Palmoplantar cutis laxa, Left ... |
OMIM:615355 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Plagiocephaly, Hemidystonia, Torticollis, Submucous cleft hard palate, Thin upper... |
OMIM:619680 |
| Spondyloenchondrodysplasia |
|
Dental malocclusion, Hypoplastic ilia, Kyphosis, Juvenile rheumatoid arthritis, Delayed eruption ... |
ORPHA:1855 |
| Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vertebral fusion, Radial club hand, Preaxial hand polydactyly, Finger syndac... |
ORPHA:959 |
| Say-Barber-Miller Syndrome |
|
Knee flexion contracture, Ankle clonus, High palate, Patellar hypoplasia, Optic atrophy, Lingual ... |
ORPHA:3132 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, High palate, Long philtrum, Kyphosis, Short philtrum, Thin upper lip vermilion, Te... |
OMIM:619244 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenu... |
ORPHA:2751 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Micrognathia, Camptodactyly, Clinodactyly of the 5th finger, Cleft lip, Brachydactyly, ... |
OMIM:619123 |
| Developmental And Epileptic Encephalopathy 80 |
|
Triphalangeal thumb, High palate, Long philtrum, Wide mouth, Tapered finger, Death in infancy, Mi... |
OMIM:618580 |
| Hypotonia-Cystinuria Syndrome |
|
Dolichocephaly, Frontal bossing, Tented upper lip vermilion, Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
| Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
| Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap |
OMIM:216300 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachycephaly, Brachyturricephaly, Pyloric stenosis, Midface retrusion, Frontal bossing, Malar fl... |
OMIM:218350 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| Aspartylglucosaminuria |
|
Brachycephaly, Spondylolysis, Thickened calvaria, Hernia, Wide mouth, Kyphosis, Thick lower lip v... |
OMIM:208400 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Skeletal muscle atroph... |
ORPHA:3208 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Abnormal lower motor neuron morphology, Abnormal rib morphology, Intes... |
ORPHA:93941 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Brachycephaly, Midface retrusion, Macroglossia, Everted lower lip vermilion, Inguinal hernia, Dow... |
ORPHA:96147 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Type 2 muscle fiber predominance, Choreoathetosis, Everted lower lip vermilion, Sk... |
OMIM:615471 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
| Opitz Gbbb Syndrome |
|
High palate, Long philtrum, Ectopic anus, Natal tooth, Hypodontia, Ankyloglossia, Vertebral segme... |
ORPHA:2745 |
| Spinocerebellar Ataxia 28 |
|
Dystonia, Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypertrophic cardiomyopathy, Choreoathetosis, Dystonia |
ORPHA:391428 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Eisenmenger Syndrome |
|
Cyanosis, Pedal edema, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palp... |
ORPHA:97214 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Mandibular prognathia, High palate, Advanced eruption of teeth, Reduced subcutaneous... |
ORPHA:769 |
| Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
| Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr... |
OMIM:260400 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Optic atrophy, Muscular dystrophy, Bifid uvula, Submucous cleft hard palate, A... |
ORPHA:899 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... |
OMIM:617412 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... |
ORPHA:2777 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
| Coffin-Siris Syndrome 12 |
|
Delayed cranial suture closure, Hip subluxation, High palate, Micrognathia, Velopharyngeal insuff... |
OMIM:619325 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Finger syndactyly, Death in infan... |
ORPHA:989 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Scapular winging, Myopathy, Skeletal muscle atrophy, Weakness of facial musculature |
ORPHA:98673 |
| Aortic Arch Interruption |
|
Cyanosis, Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Right b... |
ORPHA:2299 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Hyperextensible skin, Atrophic scars, Joint laxity, Pectus excavatum, Calcaneovalgus deformity, I... |
OMIM:225320 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Short humerus, Ankylosis, Barrel-s... |
OMIM:239000 |
| Schisis Association |
|
Spina bifida, Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Micromeli... |
ORPHA:63862 |
| Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis |
OMIM:615706 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
| Carnitine Deficiency, Systemic Primary |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
| Noonan Syndrome 10 |
|
Hyperextensible skin, High palate, Palmoplantar cutis laxa, Left ventricular hypertrophy, Pectus ... |
OMIM:616564 |
| Alkaptonuria |
|
Vertebral fusion, Thickened Achilles tendon, Kyphosis, Arthropathy, Arthritis, Low back pain, Lim... |
OMIM:203500 |
| Costello Syndrome |
|
Polyhydramnios, High palate, Limited elbow movement, Hyperextensibility of the finger joints, Wid... |
OMIM:218040 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Cleft soft palate, Clinodactyly of the 5th finger, Thin upper lip vermilio... |
OMIM:620183 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Scoliosis, Head titubation, Hemivertebrae, Facial palsy |
OMIM:614688 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Cleft soft palate, Short philtrum, Oligohydramnios, Adducted thumb, Smooth philtrum |
ORPHA:293725 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly, Athetosis, Choreoathetosis |
OMIM:309541 |
| Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disc degeneration, Bifid uvula... |
ORPHA:284984 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Hyperextensible skin, Joint hypermobility, Spina bifida occulta, Skeletal muscle atrophy, Joint h... |
ORPHA:230839 |
| Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Multiple lipomas, Increased adipose tissue, Ragged-red muscle fibers, Lower limb pain |
ORPHA:1349 |
| Craniorachischisis |
|
Spinal dysraphism, Anal atresia, Congenital diaphragmatic hernia, Cervical spina bifida, Bifid st... |
ORPHA:63260 |
| Cronkhite-Canada Syndrome |
|
Stomach cancer, Tapered finger, Lymphedema, Malabsorption, Intestinal polyposis, Colon cancer, Hy... |
ORPHA:2930 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Pyloric stenosis, Elbow... |
OMIM:619461 |
| Familial Visceral Myopathy |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megaco... |
ORPHA:2604 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Systolic heart murmur, Pericardial effusion, Hypoxemia, Intrauterine growth retardation... |
ORPHA:555874 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Limb hypertonia, Kyphosis, Microretrognathia, Intrauterine growth retardation |
OMIM:619909 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
High palate, Narrow palate, Natal tooth, Optic atrophy, Craniosynostosis, Palmoplantar cutis laxa... |
OMIM:123790 |
| Criss-Cross Heart |
|
Cyanosis, Mitral stenosis, Supravalvular aortic stenosis, Tricuspid stenosis, Pulmonic stenosis |
ORPHA:1461 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Brachycephaly, Patellar hypoplasia, Parietal foramina,... |
OMIM:603671 |
| Al-Gazali Syndrome |
|
Wrist flexion contracture, Polyhydramnios, Recurrent fractures, Micrognathia, Midface retrusion, ... |
OMIM:609465 |
| Ablepharon-Macrostomia Syndrome |
|
Short upper lip, Ventral hernia, Wide mouth, Short metacarpal, Toe syndactyly, Cutaneous finger s... |
OMIM:200110 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Lack of skin elasticity, Coxa valga, Long phi... |
OMIM:231050 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Blepharospasm, Multiple joint contractures, Kyphosis, Writer's cramp, Torticollis,... |
OMIM:128100 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Reduced subcutaneous adipose tissue, Ivory ep... |
OMIM:216400 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Brachycephaly, Patellar hypoplasia, Patellar dislocation, Patellar aplasia, Plagiocephaly, Fixed ... |
ORPHA:495818 |
| Juvenile Idiopathic Arthritis |
|
Joint dislocation, Cartilage destruction, Malabsorption, Arthritis, Pericardial effusion, Joint s... |
ORPHA:92 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation, Overlapping toe, Postaxial ha... |
ORPHA:672 |
| Diamond-Blackfan Anemia 1 |
|
Delayed cranial suture closure, Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Short n... |
OMIM:105650 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Abnormal sensory nerve conduction velocity, Kyphosis, Abnormal spinal cord morphol... |
ORPHA:88628 |
| Meester-Loeys Syndrome |
|
Abnormal sternum morphology, Joint dislocation, High palate, Striae distensae, Bifid uvula, Campt... |
OMIM:300989 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Polyhydramnios, Diastasis recti, Thoracic hypoplasia, Omphalocele, Umbi... |
ORPHA:254534 |
| Acromelic Frontonasal Dysplasia |
|
Brachycephaly, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Wide mouth, Midline central ... |
ORPHA:1827 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tapered finger, Optic atrophy, Micrognathia, Midface retrusion, Short neck, Delayed skeletal matu... |
OMIM:309580 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Dental crowding, Everted lower lip vermilion, Hy... |
OMIM:616367 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, High palate, Kyphosis, Joint laxity, Limitation of joint mobility, Kyphosc... |
ORPHA:457359 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Genu valgum, Broad long bone diaphyses, Tapered finger, Hip dysplasia, Hip disloca... |
OMIM:301066 |
| Solar Urticaria |
|
Abnormal lip morphology, Edema, Abnormal tongue morphology, Periorbital edema, Angioedema |
ORPHA:97230 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Thoracic hypoplasia, Long philtrum, Widely spaced teeth, Short lingual frenu... |
OMIM:619479 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Hand tremor, Head tremor, Skeletal muscle atrophy, Tongue fasciculations, Intenti... |
ORPHA:276198 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Hip subluxation, Bilateral camptodactyly, Kyphosis, Midface retrusion, Overlapping toe, Thin uppe... |
OMIM:619557 |
| Vascular Ehlers-Danlos Syndrome |
|
Gingivitis, Microdontia, Abnormal oral frenulum morphology, Pectus excavatum, Osteolysis, Abnorma... |
ORPHA:286 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Charge Syndrome |
|
Polyhydramnios, Cleft upper lip, Optic atrophy, Delayed eruption of teeth, Clinodactyly of the 5t... |
ORPHA:138 |
| Postaxial Acrofacial Dysostosis |
|
Conical tooth, Midgut malrotation, Cleft upper lip, Supernumerary vertebrae, Hypoplasia of the ra... |
OMIM:263750 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
| Seckel Syndrome 2 |
|
Microdontia, Micrognathia, Microglossia, Clinodactyly of the 5th finger |
OMIM:606744 |
| Tolchin-Le Caignec Syndrome |
|
Oxycephaly, Diastasis recti, High palate, Scaphocephaly, Micrognathia, Submucous cleft hard palat... |
OMIM:618971 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Myopathy, Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen content |
ORPHA:367 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
2-3 toe syndactyly, Brachyturricephaly, Choreoathetosis, Joint laxity, Progressive flexion contra... |
ORPHA:522077 |
| Desmosterolosis |
|
Retrognathia, Increased bone mineral density, Micrognathia, Bifid uvula, Submucous cleft hard pal... |
ORPHA:35107 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Intrauterine growth retardation |
ORPHA:284417 |
| Branchiooculofacial Syndrome |
|
Micrognathia, Elbow flexion contracture, Short neck, Cleft of chin, Cleft palate, Facial palsy, F... |
OMIM:113620 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... |
OMIM:311200 |
| Cardiofaciocutaneous Syndrome 4 |
|
Polyhydramnios, Hyperextensible skin, Joint laxity, Pectus excavatum, Optic nerve hypoplasia, Sco... |
OMIM:615280 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly, Generalized dystonia |
ORPHA:70472 |
| 1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Frontal bossing, Congenital diaphragmatic hernia, Cleft palate, Thic... |
ORPHA:250999 |
| 14Q22Q23 Microdeletion Syndrome |
|
Brachycephaly, Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syn... |
ORPHA:264200 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle, Mandibular prognathia, Narrow palate, Deep philtrum, Scarring, Severe periodontitis... |
ORPHA:99843 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
| Hutchinson-Gilford Progeria Syndrome |
|
Coxa valga, Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Abnormal thorax morp... |
ORPHA:740 |
| Adnp Syndrome |
|
Brachycephaly, 2-3 toe syndactyly, Polydactyly, Plagiocephaly, Abnormal finger morphology, Thick ... |
ORPHA:404448 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Wide mouth, Limitation of movement at ankles, Widely spaced teeth, Protrud... |
ORPHA:98794 |
| Cranioectodermal Dysplasia 1 |
|
Microdontia, Pectus excavatum, Everted lower lip vermilion, Radial deviation of finger, Flattened... |
OMIM:218330 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Brachycephaly, Small hand, Short philtrum, Sandal gap, Tented upper lip vermilion, Short foot, Th... |
OMIM:618885 |
| X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Mandibular prognathia, Wide mouth, Inguinal hernia, Thick vermilion border |
ORPHA:85290 |
| Overlap Myositis |
|
Finger swelling, Abnormality of connective tissue, Subluxation of the small joints of the hand, P... |
ORPHA:206572 |
| X-Linked Intellectual Disability, Armfield Type |
|
Brachycephaly, Mandibular prognathia, Abnormality of the elbow, Wide mouth, Small hand, Micrognat... |
ORPHA:85276 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Hyperextensible skin, Narrow palate, Long philtrum, Thick lower lip vermilion, Micrognathia, Join... |
ORPHA:555877 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Congestive heart failure... |
ORPHA:2326 |
| Orofaciodigital Syndrome Xiv |
|
Lobulated tongue, Bifid tongue, Natal tooth, Short ribs, Micrognathia, Supernumerary tooth, Aplas... |
OMIM:615948 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Turricephaly, Short metacarpal, Narrow chest, A... |
ORPHA:93317 |
| Achard Syndrome |
|
Brachycephaly, Micrognathia, Joint laxity, Arachnodactyly, Broad skull |
OMIM:100700 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Bifid tongue, Ectopic anus, Micrognathia, Abnormal... |
ORPHA:93271 |
| Atypical Rett Syndrome |
|
Small hand, Kyphosis, Tremor, Scoliosis, Short foot, Dystonia, Pill-rolling tremor |
ORPHA:3095 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Osteoporosis, Kyphosis, Platyspondyly |
ORPHA:2786 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Calcinosis, Micrognathi... |
ORPHA:90154 |
| Seckel Syndrome 9 |
|
Polyhydramnios, Scaphocephaly, Micrognathia, Dolichocephaly, Congenital diaphragmatic hernia, Int... |
OMIM:616777 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Optic atrophy, Broad alveolar ridges, Hip dysplasia, Micrognathia, Clinodactyly of t... |
OMIM:616975 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
High palate, Plagiocephaly, Kyphosis, Micrognathia, Dolichocephaly, Frontal bossing, Increased fe... |
OMIM:619005 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Generalized amyotrophy, Resting tremor, Carpal bone hypoplasia, Abnormal pelvic girdle bone morph... |
OMIM:601162 |
| Peters-Plus Syndrome |
|
Polyhydramnios, Short lingual frenulum, Micrognathia, Pectus excavatum, Short neck, Conical incis... |
OMIM:261540 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Polyhydramnios, 2-3 toe syndactyly, Finger syndactyly, Diaphragmatic eventratio... |
OMIM:620025 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lack of skin elasticity, Flexion contracture, High palate, Acroosteolysis of distal phalanges (fe... |
ORPHA:90153 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Plagiocephaly, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Esophageal atresia, Abno... |
ORPHA:2538 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
| Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Brachycephaly, Mandibular prognathia, Tapered finger, Short philtrum, Prominent metopic ridge, Ca... |
ORPHA:521445 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Brachycephaly, Wide mouth, Protruding tongue, Flat occiput, Tracheomalacia, Gingival overgrowth, ... |
OMIM:618797 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
| Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
| Floating-Harbor Syndrome |
|
Microdontia, Dislocated radial head, Celiac disease, Short neck, Delayed skeletal maturation, Enl... |
ORPHA:2044 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Finger syndactyly, Delayed eruption of teeth, Hypodontia, Abnormality of... |
ORPHA:464 |
| Peters Plus Syndrome |
|
Brachycephaly, Polyhydramnios, Optic atrophy, Toe syndactyly, Micrognathia, Spina bifida occulta,... |
ORPHA:709 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Optic nerve compression, Recurrent fractures, Delayed eruption of teeth... |
ORPHA:667 |
| Gabriele-De Vries Syndrome |
|
Distal arthrogryposis, Abnormality of upper lip vermillion, High palate, Hallux valgus, Patellar ... |
ORPHA:506358 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Micrognathia, Macroglossia, Protruding tongue, Sinusitis, Malar flattening |
OMIM:242860 |
| Schilbach-Rott Syndrome |
|
Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Clinodac... |
OMIM:164220 |
| Scleromyxedema |
|
Myopathy, Abnormal skeletal muscle morphology, Hypoperistalsis |
ORPHA:167635 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umb... |
ORPHA:2143 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Gingivitis, Microdontia, Hip dislocation, Abnormality of the wrist, Genital hernia, Elbow disloca... |
ORPHA:285 |
| Immunodeficiency 9 |
|
Myopathy |
OMIM:612782 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Joint dislocation, High palate, Pectus carinatum, Striae distensae, Micr... |
ORPHA:60030 |
| Ring Chromosome 22 Syndrome |
|
2-3 toe syndactyly, Lymphedema, Midface retrusion, Dolichocephaly, Pleural effusion, Edema, Protr... |
ORPHA:1446 |
| Jaberi-Elahi Syndrome |
|
Kyphosis, Optic atrophy, Choreoathetosis, Joint hypermobility, Tremor, Dystonia, Scoliosis, Trian... |
OMIM:617988 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Hyperextensible skin, Hallux valgus, Kyphosis, Hyperextensibility of the finger jo... |
OMIM:617821 |
| Blepharophimosis With Facial And Genital Anomalies And Mental Retardation |
|
Retrognathia, High palate, Narrow palate, Long philtrum, Clinodactyly of the 5th finger, Prominen... |
OMIM:604314 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Brachycephaly, Genu valgum, Wide mouth, Joint hypermobility, Intestinal malrotation, Short femur,... |
OMIM:617798 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Tented upper lip vermilion, Long philtrum |
OMIM:619972 |
| Microphthalmia, Syndromic 1 |
|
Camptodactyly, Pectus excavatum, Radial deviation of finger, Optic disc coloboma, Lumbar hyperlor... |
OMIM:309800 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Micrognathia, Short neck, Radial deviation of finger, Smooth philtrum, P... |
OMIM:249000 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, High palate, Ankyloglossia, Pectus excavatum, Adducted thumb, Thin upper lip v... |
OMIM:618874 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, High palate, Micrognathia, Clinodactyly of the 5th finger, Joint hypermobility, B... |
OMIM:617062 |
| Acromegaly |
|
Broad jaw, Mandibular prognathia, Tapered finger, Kyphosis, Widely spaced teeth, Thick lower lip ... |
ORPHA:963 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
| Aspartylglucosaminuria |
|
Anterior beaking of lumbar vertebrae, Mandibular prognathia, Pectus carinatum, Malabsorption, Art... |
ORPHA:93 |
| Sepsis In Premature Infants |
|
Cyanosis, Hypotension, Petechiae, Jaundice, Purpura, Edema, Bradycardia, Tachycardia |
ORPHA:90051 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Sacral dimple, Mandibular prognathia, High palate, Long philtrum, Tapere... |
ORPHA:261337 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Pedal edema, Hypocapnia, Systolic heart murmur, Pulmonary arterial hypertension, Pulmon... |
ORPHA:980 |
| Proteus Syndrome |
|
Metatarsus valgus, Hallux valgus, Abnormality of the wrist, Hip dislocation, Tooth agenesis, Myof... |
ORPHA:744 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening,... |
OMIM:241310 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Hypotension, Cerebral edema, Pulmonary edema, Congestive heart failure, Hypertension, S... |
ORPHA:31826 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Mandibular aplasia, Micrognathia, Tracheomalacia, Microglossia, Narrow mouth, Cle... |
OMIM:202650 |
| Pallister-Killian Syndrome |
|
Delayed cranial suture closure, Polyhydramnios, Short phalanx of finger, Flexion contracture, Del... |
OMIM:601803 |
| Somatomammotropinoma |
|
Broad jaw, Mandibular prognathia, Tapered finger, Kyphosis, Widely spaced teeth, Thick lower lip ... |
ORPHA:314769 |
| Neuroocular Syndrome |
|
Sacral dimple, Retrognathia, Tapered finger, Hyperextensibility of the finger joints, Widely spac... |
OMIM:619539 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Polyhydramnios, Retrognathia, Tapered finger, Tapered toe, Clinodactyly of the 5th... |
ORPHA:544488 |
| Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Shor... |
ORPHA:2307 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Inguinal hernia, Scoliosis, Joint ... |
OMIM:252900 |
| Birk-Barel Syndrome |
|
Sacral dimple, High palate, Reduced subcutaneous adipose tissue, Bifid uvula, Short philtrum, Mic... |
OMIM:612292 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Cleft upper lip, Death in infancy, Spinal rigidit... |
OMIM:613150 |
| Autosomal Dominant Cerebellar Ataxia |
|
Postural tremor, Tongue atrophy, Resting tremor, Torticollis, Choreoathetosis, Hand tremor, Tremo... |
ORPHA:99 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis |
ORPHA:228305 |
| Neutral Lipid Storage Myopathy |
|
Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, Increased intramyocellular... |
ORPHA:98908 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Polyhydramnios, Cutis laxa, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Optic dis... |
OMIM:270420 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Brachycephaly, Tapered finger, Hallux valgus, Patellar subluxation, Overlapping toe, Abnormal per... |
ORPHA:480880 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... |
OMIM:166220 |
| Loeys-Dietz Syndrome 2 |
|
Micrognathia, Bifid uvula, Camptodactyly, Pectus excavatum, Cleft palate, Protrusio acetabuli, So... |
OMIM:610168 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Opisthotonus, Pulmonic stenosis |
ORPHA:3304 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Scoliosis, Kyphosis |
OMIM:300861 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Absent fourth finger distal interphalangeal crease, High palate, Kyphosis, Midface retrusion, Joi... |
OMIM:618050 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Erythema, Gastrointestinal hemorrhage, Urticaria, Vasculitis |
ORPHA:343 |
| Cowden Syndrome |
|
Colorectal polyposis, High palate, Kyphosis, Macroglossia, Pectus excavatum, Scoliosis, Lipoma, B... |
ORPHA:201 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral sp... |
OMIM:619727 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Long philtrum, Small hand, Submucous cleft hard palate, Dolichocephaly, Frontal boss... |
OMIM:612863 |
| Phocomelia, Schinzel Type |
|
Humeroradial synostosis, Micrognathia, Short neck, Calvarial skull defect, Cleft palate, Ectrodac... |
ORPHA:2879 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Bell-shaped thorax, Micrognathia, Inguinal hernia, Delayed skeletal maturation |
OMIM:614857 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Flexion contracture, Weakness of facial musculature |
OMIM:201470 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Limb muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities |
OMIM:609286 |
| Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Macroglossia, Edema, Periorbital edema, Furrowed to... |
ORPHA:2483 |
| Mend Syndrome |
|
Sacral dimple, 2-3 toe syndactyly, Polydactyly, High palate, Kyphosis, Micrognathia, Midface retr... |
OMIM:300960 |
| Pfeiffer Syndrome Type 3 |
|
Hallux varus, High palate, Finger syndactyly, Small hand, Brachyturricephaly, Toe syndactyly, Mid... |
ORPHA:93260 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Facial erythema, Biconcave vertebral bodies, Striae distensae, Kyphosis, Purpura, Ecchymosis, Ede... |
OMIM:219090 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly, Clinodactyly of the 5th finger, Optic atrophy |
ORPHA:1173 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Long philtrum, Toe syndactyly, Ankyloglossia, Foot polydactyly, Hand polydactyly, Cl... |
ORPHA:250989 |
| Frontonasal Dysplasia 2 |
|
Conical tooth, Brachycephaly, Parietal foramina, Anterior plagiocephaly, Widely spaced teeth, Oli... |
OMIM:613451 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Perlman Syndrome |
|
Polyhydramnios, Everted upper lip vermilion, Volvulus, Ascites, Micrognathia, Congenital diaphrag... |
OMIM:267000 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Reduced subcutaneous adipose tissue, Ivory ep... |
OMIM:133540 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Supraventricular tachycardia, Right bundle branch block, Pulmonary edema, Wolff-Parkins... |
ORPHA:137675 |
| Classical Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Patellar dislocation, Pulp calcification, Incisional hernia, Hip dislocatio... |
ORPHA:287 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Meckel Syndrome 14 |
|
Cyanosis, Oligohydramnios, Mitral regurgitation, Occipital encephalocele, Increased nuchal transl... |
OMIM:619879 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
| Fraser Syndrome 1 |
|
Difficulty in tongue movements, Cleft upper lip, Abnormal small intestine morphology, Dental malo... |
OMIM:219000 |
| Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Brachycephaly, Joint contracture of the hand, Humeroradial synostosis, Radioulnar synostosis, Car... |
OMIM:201750 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Muscle fiber necrosis, EMG: myopa... |
OMIM:157640 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Hip dysplasia, Clinodactyly of the 5th finger, Joint hypermobility, Optic nerve hy... |
ORPHA:457284 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Skeletal muscle atrophy, Scoliosis, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
| Cono-Spondylar Dysplasia |
|
Polyhydramnios, Kyphosis, Short 4th toe, Short lower limbs, Midface retrusion, Cone-shaped epiphy... |
ORPHA:420794 |
| Craniofacial Microsomia |
|
Transverse facial cleft, Cleft upper lip, Genu valgum, Vertebral hypoplasia, Wide mouth, Block ve... |
OMIM:164210 |
| Micro Syndrome |
|
High palate, Kyphosis, Optic atrophy, Micrognathia, Short philtrum, Scoliosis, Joint stiffness, I... |
ORPHA:2510 |
| X-Linked Agammaglobulinemia |
|
Osteomyelitis, Cellulitis, Malabsorption, Arthritis, Skin ulcer, Sinusitis, Glossoptosis |
ORPHA:47 |
| Dravet Syndrome |
|
Cyanotic episode, Action tremor |
ORPHA:33069 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Brachycephaly, Optic atrophy, Wide mouth, Frontal bossing, Thin upper lip vermilion, Prominent me... |
OMIM:608688 |
| Leopard Syndrome 1 |
|
Mandibular prognathia, Limited elbow movement, Missing ribs, Pectus excavatum, Spina bifida occul... |
OMIM:151100 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Lower limb muscle weakness, Kyphosis, Skeletal muscle atrophy, Scoliosis, Arm dystonia |
ORPHA:88644 |
| Bilateral Perisylvian Polymicrogyria |
|
Distal arthrogryposis, Flexion contracture, Limb hypertonia, Abnormality of masticatory muscle, M... |
ORPHA:98889 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Retrognathia, Death in infancy, Redundant neck skin, Edema, Ascites |
OMIM:611719 |
| Specc1L-Related Hypertelorism Syndrome |
|
Brachycephaly, Short toe, Long philtrum, Finger syndactyly, Advanced eruption of teeth, Clinodact... |
ORPHA:1519 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy |
OMIM:614922 |
| Primary Lipodystrophy |
|
Myopathy, Skeletal muscle hypertrophy |
ORPHA:90970 |
| Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy |
OMIM:611881 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Abnormality of the cervical spine, Multiple joint contractures, Kyphosis, Optic disc... |
ORPHA:464306 |
| Polymyositis |
|
Arthritis, Chondrocalcinosis, Abnormal muscle fiber morphology |
ORPHA:732 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Skeletal muscle atrophy, Tongue atrophy |
OMIM:614153 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Short toe, Abnormality of the cervical spine, Tapered finger, Kyphosis, Optic dis... |
ORPHA:464311 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypotension, Ventricular tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:159 |
| Lysinuric Protein Intolerance |
|
Hyperextensible skin, Recurrent fractures, Cutis laxa, Skeletal muscle atrophy, Delayed skeletal ... |
OMIM:222700 |
| Classic Homocystinuria |
|
Genu valgum, High palate, Recurrent fractures, Kyphosis, Optic atrophy, Hernia, Pectus excavatum,... |
ORPHA:394 |
| Cockayne Syndrome |
|
Abnormal number of teeth, Optic atrophy, Reduced subcutaneous adipose tissue, Action tremor, Abno... |
ORPHA:191 |
| Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Macroglossia |
ORPHA:2221 |
| Witteveen-Kolk Syndrome |
|
Polyhydramnios, Toe syndactyly, Overlapping toe, Radial deviation of finger, Delayed skeletal mat... |
OMIM:613406 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid droplets, EMG: myopat... |
ORPHA:98907 |
| Icf Syndrome |
|
Malabsorption, Micrognathia, Macroglossia, Protruding tongue, Umbilical hernia |
ORPHA:2268 |
| Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Abnormality of taste sensation, Abnormal fifth cr... |
ORPHA:353253 |
| Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Calf muscle hypertrophy, Increased bone mineral ... |
ORPHA:79474 |
| Primary Pulmonary Hypoplasia |
|
Cyanosis, Hypoxemia, Intrauterine growth retardation |
ORPHA:2257 |
| Degcags Syndrome |
|
Polyhydramnios, Polydactyly, Plagiocephaly, Toe syndactyly, Micrognathia, Delayed skeletal matura... |
OMIM:619488 |
| Loeys-Dietz Syndrome 1 |
|
Retrognathia, Abnormal sternum morphology, Eosinophilic infiltration of the esophagus, Dermal tra... |
OMIM:609192 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Villous atrophy, Kyphosis, Pericardial effusion, Death in infancy, Abnormal ... |
OMIM:212065 |
| Hypoglossia With Situs Inversus |
|
High palate, Hypodontia, Micrognathia, Narrow mouth, Microglossia |
OMIM:612776 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Optic atrophy, Petechiae, Edema, Inguinal hernia, Protruding tongue, Ascites, Gingiv... |
ORPHA:93400 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Amyotrophic lateral sclerosis, Tongue atrophy |
OMIM:613435 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Transient ischemic attack, Vasculitis, Acrocyanosis, Purpura, Cutis marmorata, Congestive heart f... |
ORPHA:183 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:99901 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Neoplasm of the tongue, Polyhydramnios, Retrognathia, Micrognathia, Bifi... |
ORPHA:3047 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Hyperextensible skin, Striae distensae, Joint laxity, Joint hypermobility, Sof... |
OMIM:130020 |
| Keppen-Lubinsky Syndrome |
|
Increased susceptibility to fractures, Polyhydramnios, Flexion contracture, High palate, Opisthot... |
ORPHA:435628 |
| Mgat2-Cdg |
|
Hydrops fetalis, Kyphosis, Dolichocephaly, Pectus excavatum, Scoliosis, Osteopenia, Brachydactyly... |
ORPHA:79329 |
| Sialuria |
|
Episodic abdominal pain, Elevated hepatic transaminase, Abnormality of the mitochondrion |
ORPHA:3166 |
| Double Outlet Right Ventricle |
|
Cyanosis, Tachycardia, Pulmonic stenosis, Heart murmur |
ORPHA:3426 |
| Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Vasculitis, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice, Dystonia, Ca... |
OMIM:225750 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-... |
OMIM:300166 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Rhabdomyolysis |
OMIM:609015 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Pectus excavatum, Everted lower lip vermilion, Sacral dimple, Spina bifida, Abnorm... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Pectus excavatum, Everted lower lip vermilion, Sacral dimple, Spina bifida, Abnorm... |
ORPHA:363958 |
| Xp21 Deletion Syndrome |
|
Myopathy, Decreased muscle mass, Calf muscle hypertrophy |
ORPHA:261476 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Distal lower limb amyotrophy, Scarring, Atrophic scars, Oral mucosal blisters,... |
ORPHA:79396 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Edema |
ORPHA:97330 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis, Death in infancy, Oligohydramnios, Myopathy, Skeletal muscle atrophy, Tremor, Death in ... |
OMIM:615512 |
| Cystinosis |
|
Myopathy |
ORPHA:213 |
| Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Myelitis, Spinal canal stenosis, Proximal spinal muscular a... |
ORPHA:1320 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa |
OMIM:610842 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Narrow mouth, Kyphosis, Arachnodactyly |
ORPHA:261222 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad tel... |
OMIM:600376 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial ... |
OMIM:236680 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Flexion contracture, Cleft soft palate, Optic atrophy, Optic nerve hypoplasia, Intes... |
OMIM:619321 |
| Dubowitz Syndrome |
|
Sacral dimple, High palate, Delayed eruption of teeth, Micrognathia, Velopharyngeal insufficiency... |
OMIM:223370 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Hypoxemia |
ORPHA:1302 |
| Keutel Syndrome |
|
Optic atrophy, Calcification of cartilage, Midface retrusion, Recurrent sinusitis, Soft, doughy s... |
ORPHA:85202 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Ischemic stroke, Cerebral hemorrhage, Nasal mucosa telangiectasi... |
OMIM:610655 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Heart murmur |
ORPHA:1867 |
| 15Q14 Microdeletion Syndrome |
|
Long philtrum, Kyphosis, Biparietal narrowing, Short philtrum, Inguinal hernia, Scoliosis, Smooth... |
ORPHA:261190 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Brachycephaly, Hyperextensible skin, Hallux valgus, Skin ulcer, Pectus excavatum, Ecchymosis, Sco... |
ORPHA:2072 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Flexion contracture, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Pectus... |
ORPHA:261537 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hyperlordosis, Ganglioneuromatosis, Aganglionic megacolon, Reduced subcutaneous adipose tissue, J... |
ORPHA:653 |
| Loeys-Dietz Syndrome 3 |
|
Hip osteoarthritis, Osteochondritis dissecans, Bifid uvula, Camptodactyly, Knee osteoarthritis, C... |
OMIM:613795 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Delayed cranial suture closure, Sacral dimple, Brachycephaly, Preaxial hand polydactyly, Long phi... |
ORPHA:2211 |
| Angelman Syndrome |
|
Mandibular prognathia, Optic atrophy, Wide mouth, Widely spaced teeth, Protruding tongue, Tremor,... |
ORPHA:72 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Long philtrum, Micrognathia, Edema, Inguinal hernia, Increased number of skin folds, Cleft palate... |
ORPHA:2505 |
| Mcleod Syndrome |
|
Myopathy, Rhabdomyolysis |
OMIM:300842 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal sternum morphology, Pectus excavatum, Intestinal malrotation, Congenital diaphragmatic h... |
ORPHA:2847 |
| Mowat-Wilson Syndrome |
|
Flexion contracture, Tapered finger, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Campt... |
ORPHA:2152 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Small hand, Kyphosis, Hip dysplasia, Thin upper lip vermilion, Downturned co... |
ORPHA:398069 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Long philtrum, Neurogenic bladder, Type 2 muscle ... |
OMIM:619173 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Shoulder girdle muscle weakness, Left ventricular hypertrophy, Hypomimic face, EMG: myopathic abn... |
ORPHA:254892 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Polyhydramnios, Esophageal atresia, Hand polydactyly, Abnormal vertebral morpholog... |
OMIM:314390 |
| Charge Syndrome |
|
Polyhydramnios, Micrognathia, Abnormal rib morphology, Cleft palate, Facial palsy, Radial head su... |
OMIM:214800 |
| Pseudoxanthoma Elasticum |
|
Lack of skin elasticity, Multiple lipomas, Hyperextensible skin, High palate, Striae distensae, A... |
ORPHA:758 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesi... |
OMIM:187300 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Myopathy, Skeletal muscle atrophy |
OMIM:619743 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Non-midline cleft lip, Midface retrusion, Cleft palate |
ORPHA:1791 |
| Microphthalmia, Syndromic 6 |
|
Retrognathia, Polydactyly, Contracture of thumb, Brachycephaly, High palate, Finger syndactyly, P... |
OMIM:607932 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Redundant neck skin, Postaxial hand polydactyly, Abnorma... |
ORPHA:2519 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Finger syndactyly, Delayed eruption of teeth, Widely spaced... |
ORPHA:1071 |
| Chronic Pneumonitis Of Infancy |
|
Cyanosis, Hypoxemia |
ORPHA:91359 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Nonimmune hydrops fetalis, Redundant neck skin, Intrauterine growth retardation |
OMIM:619003 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint mobility, Abnormal ... |
ORPHA:1416 |
| Serkal Syndrome |
|
Oligohydramnios, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial cleft |
ORPHA:139466 |
| Barber-Say Syndrome |
|
Redundant skin, Hyperextensible skin, Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia... |
OMIM:192445 |
| Pseudoxanthoma Elasticum |
|
White oral mucosal macule, Optic disc drusen, Cutis laxa |
OMIM:264800 |
| Orofaciodigital Syndrome Type 14 |
|
Lobulated tongue, Deviation of the hallux, Bifid tongue, Supernumerary tooth, Aplasia of the epig... |
ORPHA:434179 |
| Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Systolic heart murmur, Generalized edema |
OMIM:617478 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor |
OMIM:613724 |
| Joubert Syndrome 1 |
|
Plagiocephaly, Optic disc pallor, Clinodactyly, Macroglossia, Postaxial foot polydactyly, Protrud... |
OMIM:213300 |
| Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Submucous cleft hard palate, Trismus |
OMIM:609166 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventri... |
ORPHA:216694 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Triphalangeal thumb, Kyphosis, Small hypothenar eminence, Contracture of the proximal interphalan... |
ORPHA:2232 |
| Danon Disease |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Myocardial necrosis, Limb muscle weakness, ... |
OMIM:300257 |
| Aica-Ribosiduria |
|
Brachycephaly, Thin upper lip vermilion, Wide mouth |
ORPHA:250977 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Flexion contracture, Hallux valgus, Optic atrophy, Delayed eruption of teeth, Bifid uvula, Campto... |
ORPHA:261552 |
| Lelis Syndrome |
|
Mandibular prognathia, Hypodontia, Midface retrusion, Carious teeth, Furrowed tongue |
ORPHA:140936 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate |
OMIM:613456 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Polyhydramnios, Mandibular aplasia, Narrow mouth, Microglossia, Abnormal cranial nerve morphology |
ORPHA:990 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth |
OMIM:618732 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Brachycephaly, Plagiocephaly, Humeroradial synostosis, Carpal synostosis, Frontal bossing, Tarsal... |
OMIM:236410 |
| Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate, Clinodactyly... |
OMIM:619314 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stricture, Flexion contracture, Ankyloglossia, Esophageal stenosis, Anal fissure, Narr... |
ORPHA:89842 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short... |
OMIM:208500 |
| Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Polyhydramnios, Progressive forearm bowing, Tarsometatarsal synostosis, ... |
OMIM:600383 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Joint contracture of the hand, Jaundice, Camptodactyly, Abnormality of the mitochondrion, Elevate... |
OMIM:214110 |
| Lipoid Proteinosis |
|
High palate, Tongue nodules, Thick lower lip vermilion, Scarring, Abnormal oral mucosa morphology... |
ORPHA:530 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Hypodontia, Bifid uvula, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th... |
ORPHA:69085 |
| Incontinentia Pigmenti |
|
Conical tooth, Optic atrophy, Delayed eruption of teeth, Hypodontia, Oligodontia, Supernumerary r... |
OMIM:308300 |
| Okamoto Syndrome |
|
Polydactyly, Exaggerated median tongue furrow, Hip dysplasia, Midface retrusion, Prominent metopi... |
ORPHA:2729 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Delayed eruption of teeth, Broad clavicles, Gingival... |
ORPHA:508542 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly, Wide mouth |
OMIM:616083 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Toe syndactyly, Micrognathia, Camptodactyly, Short neck, Radial deviation of fing... |
OMIM:256520 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Inguinal hernia, Protruding tongue, Abnormal form of the vertebral bodies, Gingiva... |
ORPHA:93399 |
| Stormorken Syndrome |
|
Myopathy |
OMIM:185070 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele, Intrauterine growth retardation, Cleft lip |
ORPHA:563609 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Opisthotonus, Choreoathetosis |
OMIM:619580 |
| Pagod Syndrome |
|
Optic atrophy, Death in infancy, Spina bifida, Congenital diaphragmatic hernia, Abnormal clavicle... |
ORPHA:991 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Striae distensae, Kyphosis, Skeletal muscle atrophy, Osteopenia, Osteoporosis |
OMIM:219080 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Glossitis, Cheilitis, Pallor |
ORPHA:90045 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Abnormal sternum morphology, Peau d'orange, High palate, Kyphosis, Scoliosis, High, narrow palate |
OMIM:177850 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Micrognathia,... |
OMIM:258315 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Kyphosis, Lymphedema, Cellulitis, Micrognathia, Predominantly lower limb lymphed... |
OMIM:153400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Increased muscle lipid content, Rhabdomyolysis, Muscle fiber atrophy |
ORPHA:228302 |
| Alkaptonuria |
|
Joint dislocation, Thickened Achilles tendon, Cartilage destruction, Arthritis, Calcification of ... |
ORPHA:56 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Cyanosis, Opisthotonus, Myelomeningocele |
ORPHA:1136 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Intussusception, Clubbing of fingers, Frontal bossing, Narrow mouth, Intesti... |
ORPHA:79076 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Pericardial effusion, Acrocyanosis, Pleural effusion, Edema, Asc... |
ORPHA:2905 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Absence of the sacrum, Bifid uvula, Submucous cleft hard palate, Butterfly ver... |
OMIM:617660 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Mandibular prognathia, High palate, Kyphosis, Joint laxity, Frontal bossing, Scoli... |
OMIM:617011 |
| Srd5A3-Cdg |
|
Oligodontia, Optic atrophy, Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
| Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Submucous cleft soft palate, Short neck, Intrauterine growth ret... |
ORPHA:2282 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Ankle clonus, Talipes valgus, Flexion contracture, Submucous cleft hard palate, Generalized limb ... |
OMIM:618891 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hydrops fetalis, Valvular pulmonary stenosis, Mitral stenosis, Subpulmonary stenosis, E... |
OMIM:212093 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Plagiocephaly, Smooth philtrum, Isometric tremor, Genu valgum, Osteomyelitis, Dolichocephaly, Int... |
OMIM:619475 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Mandibular prognathia, Spina bifida, Supernumerary ribs, Smooth philtrum... |
OMIM:193500 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Decreased amplitude... |
OMIM:618733 |
| Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Ankyloglossia, Micrognathia, Microretrognathia, Cleft palate, Amelia, Glosso... |
OMIM:618021 |
| Holoprosencephaly 13, X-Linked |
|
Vertebral clefting, Septo-optic dysplasia, Thoracic hemivertebrae, Micrognathia, Submucous cleft ... |
OMIM:301043 |
| Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly, Enlarged interphalangeal joints, Abnormality of the epiphysis of the distal phalan... |
ORPHA:2988 |
| Japanese Encephalitis |
|
Cerebral edema, Stiff neck, Pulmonary edema, Paucity of anterior horn motor neurons, Decreased mo... |
ORPHA:79139 |
| Alg1-Cdg |
|
Kyphosis, Protein-losing enteropathy, Scoliosis, Limitation of joint mobility |
ORPHA:79327 |
| Diets-Jongmans Syndrome |
|
Polyhydramnios, Wide mouth, Hip dysplasia, Joint hypermobility, Thin upper lip vermilion, Congeni... |
OMIM:618846 |
| Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Glossitis, Clubbing of fingers, Clubbing, Xerostomia, Hamartomatous polyposis, Pro... |
OMIM:175500 |
| Antisynthetase Syndrome |
|
Lack of skin elasticity, Joint dislocation, Myositis, Edema, Xerostomia |
ORPHA:81 |
| Rare Circulatory System Disease |
|
Cyanosis, Intermittent claudication |
ORPHA:98028 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Bifid uvula, Hip dislocation, Epiphyseal stipp... |
OMIM:270400 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Atrophy/Degeneration involving the spinal cord, Increased variability in muscle fiber diameter, R... |
ORPHA:70595 |
| Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue, Flat occiput |
ORPHA:411511 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Micrognathia, Optic disc coloboma, Dehydration |
ORPHA:2260 |
| Hyperoxaluria, Primary, Type I |
|
Arterial occlusion, Intermittent claudication, Acrocyanosis, Cutis marmorata, Raynaud phenomenon,... |
OMIM:259900 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Myopathy, Skeletal muscle hypertrophy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... |
ORPHA:280365 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Unilat... |
OMIM:619103 |
| Gaucher Disease Type 1 |
|
Pedal edema, Avascular necrosis, Kyphosis, Pericardial effusion, Increased bone mineral density, ... |
ORPHA:77259 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Protruding tongue, Scoliosis, Trigonocephaly, Gingival overgrowth |
OMIM:619179 |
| Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia, Neonata... |
OMIM:245650 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Hyperlordosis, Clinodactyly of the 2nd finger, Long philtrum, Micrognathia, ... |
ORPHA:73223 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia |
OMIM:610910 |
| Sanjad-Sakati Syndrome |
|
Myopathy |
ORPHA:2323 |
| Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele |
ORPHA:95706 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Cleft palate, Dystonia, Ragged-red muscle fibers |
OMIM:614924 |
| Localized Scleroderma |
|
Myopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:90289 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Hyperextensible skin, Recurrent fractures, Dermal translucency, Joint hypermobility, Inguinal her... |
OMIM:619115 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Alexander Disease |
|
Hyperlordosis, High palate, Kyphosis, Abnormal autonomic nervous system physiology, Frontal bossi... |
ORPHA:58 |
| X-Linked Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Hernia, Inguinal hernia, Joint hyperflexibility, Umbilical hernia |
ORPHA:75497 |
| Fraser Syndrome |
|
Umbilical hernia, Dental malocclusion, Cleft upper lip, Bifid tongue, High palate, Ectopic anus, ... |
ORPHA:2052 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Enamel hypoplasia, Genu valgum, Camptodactyly of finger, Finger swelling, Joint c... |
OMIM:309000 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Biparietal narrowing, Clinodactyly of the 5th finger, Glossoptosis |
ORPHA:2031 |
| Dermatomyositis |
|
Pulmonary arterial hypertension, Cutaneous photosensitivity, Sinus tachycardia, Acrocyanosis, Per... |
ORPHA:221 |
| B4Galt1-Cdg |
|
Thin upper lip vermilion, Edema, Long philtrum, Redundant neck skin |
ORPHA:79332 |
| Ramos-Arroyo Syndrome |
|
Long philtrum, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Frontal bossi... |
ORPHA:1051 |
| Vater/Vacterl Association |
|
Triphalangeal thumb, Abnormal sternum morphology, Esophageal atresia, Spina bifida, Hypoplasia of... |
OMIM:192350 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Death in infancy, Tremor, Tented upper lip v... |
OMIM:619424 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Skeletal myopathy, Abnormality of the calf musculature, Abnormality of the shoulder girdle muscul... |
ORPHA:565612 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Rhabdomyolysis, Lower limb muscle weakness, Skeletal myopathy |
ORPHA:746 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:265120 |
| Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Flexion contracture, Abnormality of peripheral nerve conduction, Kyphosis, Neu... |
ORPHA:90324 |
| Congenital Myopathy 17 |
|
Distal arthrogryposis, Myopathy, Diaphragmatic eventration |
OMIM:618975 |
| Sotos Syndrome |
|
Pedal edema, 2-3 toe syndactyly, Flexion contracture, No permanent dentition, Pectus excavatum, B... |
ORPHA:821 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Optic atrophy, Micrognathia, Oligohy... |
ORPHA:564 |
| Tetraamelia Syndrome 1 |
|
Cleft upper lip, Micrognathia, Anal atresia, Tetraamelia, Congenital diaphragmatic hernia, Hypopl... |
OMIM:273395 |
| Immunodeficiency 47 |
|
Cutis laxa, Death in infancy, Joint hypermobility |
OMIM:300972 |
| Cardiac Diverticulum |
|
Diastasis recti, Aplasia/Hypoplasia of the sternum, Left ventricular hypertrophy, Omphalocele, Ab... |
ORPHA:1686 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers |
OMIM:607426 |
| Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Myopathy |
ORPHA:79086 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Pulmonary arterial hypertension, Left ventricular outflow tract obstruction, Heart murm... |
ORPHA:99050 |
| Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Autophagic vacuoles, EMG: myopathic abnormalities... |
OMIM:164310 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Aganglionic megacolon, Abnormal vertebral morphology, Oligodac... |
ORPHA:2273 |
| Leigh Syndrome |
|
Myopathy, Skeletal muscle atrophy, Multiple joint contractures |
ORPHA:506 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Blepharospasm, Muscle fiber atrophy, Resting tremor, Lingual dystonia, A... |
ORPHA:2388 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Mandibular prognathia, Wide mouth, Widely spaced teeth |
ORPHA:98795 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Ost... |
OMIM:619718 |
| Humeroradial Synostosis |
|
Brachycephaly, Humeroradial synostosis |
OMIM:236400 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Knee flexion contracture, Microdontia, Elbow flexion contracture, Corneal scarring, Oral leukopla... |
OMIM:148210 |
| Usher Syndrome |
|
Myopathy |
ORPHA:886 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Omphalocele, Unilateral cleft lip |
ORPHA:2736 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:157 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Cleft upper lip, Hypoplasia of the frontal bone, Bifid uvula, Midface retrusion, M... |
OMIM:229400 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hyperextensible skin, Dermal translucency, Joint laxity, Oligohydramnios, Soft, doughy skin, Esop... |
ORPHA:541423 |
| Scleroderma |
|
Myopathy, Flexion contracture, Facial palsy |
ORPHA:801 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Hyperextensible skin, Long philtrum, Cutis laxa, Inguinal hernia, Redundant skin, Uterine prolapse |
OMIM:123700 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Knee flexion contracture, Elbow flexion contracture, Hip contracture, EMG: myopathic abnormalities |
ORPHA:371364 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy |
OMIM:115197 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebral edema, Death in infancy, Increased intramyocellular lipid droplets, Skeletal muscle atro... |
OMIM:252010 |
| Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masse... |
ORPHA:423 |
| Melas |
|
Abnormal mitochondria in muscle tissue, Myopathy, Ragged-red muscle fibers |
ORPHA:550 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Increased pulmonary vascular resistance, Ri... |
ORPHA:60025 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Severe platyspondyly, Recurren... |
OMIM:259770 |
| Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Micrognathia, Inguinal hernia, Congenital diaphragmatic hernia, Intrau... |
OMIM:601186 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Block vertebrae, Absence of the sacrum, Short long bone, Anal atresia, Congenital... |
OMIM:306955 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Resting tremor, Kyphosis, Oculogyric crisis, Camptocormia, Open mouth |
ORPHA:97349 |
| Hypoglossia-Hypodactylia |
|
Retrognathia, Micrognathia, Microglossia, Narrow mouth, Adactyly, Split hand, Aglossia |
OMIM:103300 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy |
ORPHA:85450 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Kyphosis, Choreoathetosis, Scoliosis, Joint stiffness, Dystonia |
ORPHA:702 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Retrognathia, Mandibular aplasia, Abnormality of the anus, Micrognathia, Midface r... |
ORPHA:2556 |
| Bazex Syndrome |
|
Furrowed tongue, Joint hypermobility |
OMIM:301845 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
| Coccidioidomycosis |
|
Osteomyelitis, Pleural empyema, Abnormal long bone morphology, Arthritis, Abnormal metacarpal mor... |
ORPHA:228123 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Dextrocardia |
|
Intestinal malrotation, Congenital hip dislocation, Meckel diverticulum, Abnormal rib morphology |
ORPHA:1666 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Oligohydramnios, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Intrauterine growth re... |
OMIM:611812 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia |
ORPHA:747 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Polyhydramnios, Abnormal sternum morphology, Hyperextensible skin, High palate, Joint laxity, Ing... |
OMIM:607721 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Hypoxemia, Pulmonary arterial hypertension |
OMIM:610913 |
| Psoriasis 14, Pustular |
|
Oligoarthritis, Polyarticular arthritis, Erythema, Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal perforation, Colonic diverticula, Malabsorption, Allodynia, Death in early adulthood, ... |
OMIM:603041 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Optic atrophy |
OMIM:613154 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia, Scoliosis, Intention tremor |
OMIM:619352 |
| Giant Cell Arteritis |
|
Optic atrophy, Arthritis, Skin ulcer, Glossitis, Joint stiffness |
ORPHA:397 |
| Deafness-Craniofacial Syndrome |
|
Bifid tongue, Short lingual frenulum, Short philtrum, Frontal bossing, Abnormal palate morphology... |
ORPHA:3241 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Ankyloglossia, Micrognathia, Supernumerary tooth, Pectus excavatum, Inguinal hernia, Scoliosis, N... |
OMIM:619525 |
| Congenital Tracheomalacia |
|
Tracheobronchomalacia, Cutis laxa, Esophageal atresia, Tracheoesophageal fistula, Tracheomalacia |
ORPHA:95430 |
| Thyrotoxic Periodic Paralysis |
|
Abnormality of peripheral nerve conduction, Rhabdomyolysis, Lower limb muscle weakness, Abnormal ... |
ORPHA:79102 |
| Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
| Adult-Onset Still Disease |
|
Arthritis, Cartilage destruction, Joint swelling, Erythema |
ORPHA:829 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Chand Syndrome |
|
Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth... |
ORPHA:1401 |
| Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smoo... |
OMIM:257980 |
| Stromme Syndrome |
|
Myopathy |
OMIM:243605 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Polyhydramnios, Redundant neck skin |
OMIM:617967 |
| Encephalocraniocutaneous Lipomatosis |
|
Multiple lipomas, Craniofacial hyperostosis, Osteolysis, Lipodystrophy, Osteochondrosis, Abnormal... |
ORPHA:2396 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Optic atrophy, Kyphosis, Foot dorsiflexor weakness, Generalized dystonia, Lower lim... |
ORPHA:171629 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
| Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
| Hardikar Syndrome |
|
Thoracolumbar scoliosis, Umbilical hernia, Cleft soft palate, Intestinal malrotation, Celiac dise... |
OMIM:301068 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue, Midface retrusion |
DECIPHER:52 |
| Papillorenal Syndrome |
|
Hyperextensible skin, Joint laxity, Edema, Soft skin, Scoliosis, Optic disc coloboma |
OMIM:120330 |
| 17Q11 Microdeletion Syndrome |
|
Diaphyseal dysplasia, Abnormality of the sphenoid sinus, Kyphosis, Beaking of vertebral bodies T1... |
ORPHA:97685 |
| Alstrom Syndrome |
|
Gingivitis, Kyphosis, Hyperostosis frontalis interna, Accelerated skeletal maturation, Scoliosis,... |
OMIM:203800 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Scoliosis, Wide mouth |
OMIM:614325 |
| Neurooculocardiogenitourinary Syndrome |
|
Downturned corners of mouth, Redundant neck skin, Smooth philtrum |
OMIM:618652 |
| Plummer-Vinson Syndrome |
|
Esophageal web, Tongue atrophy, Glossitis, Pallor, Narrow mouth, Intra-oral hyperpigmentation, Ch... |
ORPHA:54028 |
| Mowat-Wilson Syndrome |
|
Widely spaced teeth, Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucou... |
OMIM:235730 |
| Velocardiofacial Syndrome |
|
Retrognathia, Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, I... |
OMIM:192430 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Narrow mouth, Cle... |
OMIM:154500 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Skin ulcer, Glossitis, Erythema, Furrowed tongue, Abnormality of the tongue, Dry s... |
ORPHA:37 |
| Microsporidiosis |
|
Osteomyelitis, Glossitis, Myositis, Sinusitis, Dehydration |
ORPHA:2552 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Optic atrophy, Stomatitis, Glossitis, Smooth philtrum, Dehydration, Atrophy of t... |
ORPHA:79282 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Midface retrusion, Thin upper lip vermilion, Scoliosis, Athetosis, Dystonia |
OMIM:613454 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Acrocyanosis, Hypertension |
OMIM:223900 |
| Alagille Syndrome 1 |
|
Butterfly vertebral arch, Hypoplasia of the ulna, Frontal bossing, Abnormal rib morphology, Short... |
OMIM:118450 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Acrocyanosis |
ORPHA:589 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Limb dystonia, Hand tremor, Torsion dystonia, Protruding tongue, F... |
ORPHA:53351 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Striae distensae, Petechiae, Joint laxity, Atypical scarring of skin |
OMIM:225310 |
| Vici Syndrome |
|
Myopathy, Left ventricular hypertrophy |
OMIM:242840 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Truncus Arteriosus |
|
Cyanosis, Pulmonary edema, Pulmonic stenosis, Aortic regurgitation, Abnormal heart valve physiolo... |
ORPHA:3384 |
| Townes-Brocks Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Absent toe, Wide mouth, Aplasia/Hypoplasia of the... |
ORPHA:857 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hernia, Oligohydramnios, Intestinal malrotation, Congenital diaphragmatic hernia, Cervical ribs, ... |
ORPHA:2255 |
| Primary Hyperoxaluria |
|
Arterial occlusion, Intermittent claudication, Acrocyanosis, Cutis marmorata, Raynaud phenomenon,... |
ORPHA:416 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Intrauterine growth retardation, Duodenal stenosis |
ORPHA:2470 |
| Abetalipoproteinemia |
|
Myopathy, Distal lower limb muscle weakness |
ORPHA:14 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Hypoxemia |
OMIM:610921 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Cervical ribs, Intestinal malrotation, Congenital diaphragmatic he... |
OMIM:600001 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Acrocyanosis, Hypertension |
ORPHA:1764 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Optic nerve compression, Optic atrophy, Death in infancy, Osteopetrosis, Multiple rib fractures, ... |
OMIM:612301 |
| Hartnup Disease |
|
Malabsorption, Gingivitis, Glossitis |
ORPHA:2116 |
| Kosaki Overgrowth Syndrome |
|
Thoracolumbar scoliosis, Thin upper lip vermilion, Hyperextensible skin, Scoliosis |
OMIM:616592 |
| Wolfram Syndrome |
|
Myopathy |
ORPHA:3463 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Hyperextensible skin, Recurrent fractures, Dermal translucency, Joint hypermob... |
OMIM:619120 |
| Aicardi-Goutières Syndrome |
|
Arrhinencephaly, Raynaud phenomenon, Acrocyanosis, Cutis marmorata, Hypertrophic cardiomyopathy, ... |
ORPHA:51 |
| Holoprosencephaly 2 |
|
Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft hard palate, Midface retru... |
OMIM:157170 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Stomatitis, Glossitis, Tracheoesophageal fistula, Thin upper lip vermilion |
OMIM:277380 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Enamel hypoplasia, Foot joint contracture, Flexion contracture, Esophageal ulceration, Erosion of... |
ORPHA:79408 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Myopathy |
OMIM:612541 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Widely spaced teeth |
OMIM:300942 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Back pain, Kyphosis, Hip osteoarthritis, Enthesitis, Inflam... |
OMIM:106300 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Vertebral compression fracture, Osteoporosis, Bone pain |
ORPHA:85193 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Polyhydramnios, Fetal ascites, Oligohydramnios |
ORPHA:141127 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of dental morphology, Scarring, Scaling skin, Anoperineal fistula, Abnormal tongue mo... |
ORPHA:158668 |
| Esophageal Atresia |
|
Cyanosis, Polyhydramnios |
ORPHA:1199 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Stomatitis, Glossitis, Intrauterine growth retardation |
ORPHA:79284 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly, Short lingual frenulum, Short philtrum, Anteriorly placed anus, Widely-spaced maxi... |
OMIM:608980 |
| Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Neonatal death, Wide anterior fontanel, Posterolateral diaphragm... |
OMIM:194080 |
| Ramon Syndrome |
|
Narrow palate, Kyphosis, Juvenile rheumatoid arthritis, Delayed eruption of teeth, Gingival fibro... |
OMIM:266270 |
| Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis |
ORPHA:268943 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ragged-red muscle fibers, Optic atrophy |
ORPHA:255210 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Ventral hernia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele |
OMIM:313850 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteoporosis, Striae distensae, Osteopenia, Kyphosis |
OMIM:610475 |
| Postinfectious Vasculitis |
|
Ischemic stroke, Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin, Cerebra... |
ORPHA:48435 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Acute rhabdomyolysis, EMG: myopathic abnormalities |
ORPHA:480864 |
| Steinert Myotonic Dystrophy |
|
Polyhydramnios, Abnormality of masticatory muscle, Pelvic girdle muscle weakness, Facial diplegia... |
ORPHA:273 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Anal atresia, Scoliosis, Narrow chest, Thin vermilion border, Omphalocele, Lumbar hyper... |
OMIM:182210 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Hyperextensible skin, Perio... |
OMIM:130050 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Osteomyelitis, Cartilage destruction, Enthesitis, Arthritis, Infla... |
ORPHA:29207 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Glossitis, Pallor |
ORPHA:35858 |
| Caribbean Parkinsonism |
|
EMG: myopathic abnormalities |
ORPHA:97355 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Congenital diaphragmatic hernia, Anteriorly placed anus, Colonic atresia, Cleft palate |
OMIM:309801 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Optic atrophy, Clinodactyly, Redundant neck skin, Tethered cord, Intrauterine growth retardation,... |
OMIM:618164 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Inguinal hernia... |
ORPHA:2250 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Oligohydramnios |
OMIM:617641 |
| Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass |
OMIM:234200 |
| Cystinosis, Nephropathic |
|
Myopathy, Skeletal muscle atrophy |
OMIM:219800 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteoporosis, Striae distensae, Osteopenia, Kyphosis |
OMIM:610489 |
| Leprechaunism |
|
Hyperextensible skin, Reduced subcutaneous adipose tissue, Megarectum, Skeletal muscle atrophy, S... |
ORPHA:508 |
| Common Variable Immunodeficiency |
|
Brachycephaly, Gastrointestinal stroma tumor, Purpura, Anal atresia |
ORPHA:1572 |
| Glucagonoma |
|
Stomatitis, Glossitis, Steatorrhea, Intestinal obstruction, Ascites, Necrolytic migratory erythem... |
ORPHA:97280 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Neonatal death, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:124000 |
| Mucoepithelial Dysplasia, Hereditary |
|
Furrowed tongue, Erythematous oral mucosa |
OMIM:158310 |
| Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
| Kawasaki Disease |
|
Palmoplantar erythema, Arthritis, Glossitis, Edema, Cheilitis |
ORPHA:2331 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Flexion contracture, Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
ORPHA:365 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
| Plague |
|
Enterocolitis, Abnormality of the elbow, Arthritis, Skin ulcer, Glossitis, Inflammation of the la... |
ORPHA:707 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
| Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Intestinal malrotation, Congenital diaphragmatic hernia... |
OMIM:618280 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
| Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Calcification of cartilage |
ORPHA:3348 |
| Meacham Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:3097 |
| Goodpasture Syndrome |
|
Cyanosis, Pulmonary hemorrhage |
OMIM:233450 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Pulmonary arterial hypertension, Right ventricular failure, Mitral regurgitation, Low-o... |
ORPHA:99125 |
| Carney Complex |
|
Neoplasm of the stomach, Striae distensae, Abnormal hard palate morphology, Tongue nodules, Esoph... |
ORPHA:1359 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Ineffective esophageal peristalsis, Achalasia, Scoliosis, Kyphosis |
OMIM:619482 |
| Pachyonychia Congenita 3 |
|
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia |
OMIM:615726 |
| Alström Syndrome |
|
Gingivitis, Short toe, Lumbar scoliosis, Kyphosis, Hyperostosis frontalis interna, Accelerated sk... |
ORPHA:64 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis |
OMIM:188580 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia, Tachycardia |
OMIM:601887 |
