Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... |
OMIM:144300 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Mandibular prognathia, Thickened calvaria, Delayed eruption of tee... |
OMIM:265900 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... |
ORPHA:2777 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized ... |
ORPHA:2790 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Thin bony cortex, Spinal canal stenosis, Hypoplasia of the maxilla, Depressed nasa... |
OMIM:277600 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Mandibular prognathia, Abnormal cortical bone morphology, Generalized osteo... |
ORPHA:3416 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Abnormal cortical bone morphology, Dolichocephaly, Limitation of joint... |
ORPHA:166277 |
Ck Syndrome |
|
Retrognathia, Hyperlordosis, Kyphosis, Micrognathia, Abnormal cortical bone morphology, Joint hyp... |
OMIM:300831 |
Codas Syndrome |
|
Enamel hypoplasia, Genu valgum, Generalized joint laxity, Lumbar scoliosis, Delayed eruption of t... |
OMIM:600373 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Achard Syndrome |
|
Brachycephaly, Micrognathia, Joint laxity, Broad skull |
OMIM:100700 |
Grant Syndrome |
|
Brachycephaly, Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Frontal bossin... |
ORPHA:2097 |
Gnathodiaphyseal Dysplasia |
|
Broad jaw, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteope... |
ORPHA:53697 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Microcephaly, Joint hyperflexibility, Osteoporosis, Wormian bones |
ORPHA:2787 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Flat acetabular r... |
OMIM:271530 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Abnormality of the knee, Foot acroosteolysis, Abnormal cortical bone morphology, O... |
ORPHA:970 |
Winchester Syndrome |
|
Kyphosis, Arthropathy, Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal b... |
OMIM:277950 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Abnormal bone ossification, Abnormality of the elbow, Wide anterior fontanel, Abno... |
ORPHA:163649 |
Weill-Marchesani Syndrome 2 |
|
Brachycephaly, Thin bony cortex, Broad skull, Elbow flexion contracture, Spinal canal stenosis, H... |
OMIM:608328 |
Scheuermann Disease |
|
Osteochondrosis, Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Depressed nasal brid... |
ORPHA:40 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Failure to thrive, De... |
OMIM:234250 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Proteus Syndrome |
|
Thin bony cortex, Macrocephaly, Spinal canal stenosis, Dolichocephaly, Facial hyperostosis, Depre... |
OMIM:176920 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Coarse metaphyseal trabecula... |
ORPHA:2635 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta, Biconcave vertebral bodies, Anterior radial head dislocation, Recurren... |
OMIM:610967 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Thin bony cortex, Recurrent fractures, Decreased circulating osteocalc... |
OMIM:619795 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Thickened cortex of bones, Progressive joint destruction, Oste... |
ORPHA:564003 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri... |
OMIM:130060 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Increased serum serotonin, Depressed nasal bridge, Congenita... |
ORPHA:85288 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Wide nasal bridge, Hyperexten... |
OMIM:313420 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Delayed ... |
OMIM:613849 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Biconc... |
OMIM:259420 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly, Abnormal form... |
ORPHA:1802 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... |
ORPHA:1832 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure, Parietal foramina |
DECIPHER:34 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Kyphosis, Small for gestational age, Delayed ossification of carpal bones,... |
OMIM:618392 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Thin bony cortex, Vertebral arch anomaly, Wide anterior fontanel, Micro... |
ORPHA:85184 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abn... |
ORPHA:3152 |
Dysostosis, Stanescu Type |
|
Brachycephaly, Hyperlordosis, Convex nasal ridge, Kyphosis, Massively thickened long bone cortice... |
ORPHA:1798 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Pycnodysostosis |
|
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,... |
ORPHA:763 |
Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Kyphosis, Scoliosis, Abnormality of bone mineral density, Abnormal os... |
ORPHA:2114 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Pycnodysostosis |
|
Spondylolysis, Prominent nose, Delayed eruption of primary teeth, Micrognathia, Increased bone mi... |
OMIM:265800 |
Parastremmatic Dwarfism |
|
Genu valgum, Flexion contracture, Kyphosis, Short neck, Scoliosis |
OMIM:168400 |
Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Turricephaly, Coronal craniosynostosis,... |
OMIM:616294 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Increased body mass index, Delayed eruption of teeth, Relative macrocephaly, Congenital h... |
OMIM:614450 |
Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Large fontanelles, Trigonocephaly, Premature adrenarche |
OMIM:616863 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, Convex nasal ridge, Wide nasal bridge, Small for gestational... |
ORPHA:3369 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Scaphocephaly, Prominent nose, Decreased body weight,... |
OMIM:614886 |
Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Recurrent fractures, Coronal craniosynostosis, Micrognathia, Midface r... |
OMIM:112240 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Increased susceptibility t... |
OMIM:604922 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Posterior vitreous detachm... |
OMIM:133780 |
Gorham-Stout Disease |
|
Mandibular pain, Osteomyelitis, Abnormal bone ossification, Abnormality of the cervical spine, Os... |
ORPHA:73 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Knee flexion contracture, Hip contracture, Epiphyseal stippling, Frontal bossing, Hypoplasia of t... |
OMIM:118650 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Wide nasal bridge, Delayed eruption of ... |
OMIM:277440 |
Coccidioidomycosis |
|
Osteomyelitis, Granuloma, Arthritis, Broad skull, Osteolysis, Eosinophilia, Abnormality of the ve... |
ORPHA:228123 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Growth Hormone Insensitivity Syndrome |
|
Hearing impairment, Hypercholesterolemia |
ORPHA:181393 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Brachycephaly, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Thin bony c... |
OMIM:259600 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Ri... |
OMIM:616602 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, L... |
ORPHA:1486 |
Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Delayed closure of the anterior fontanelle, Convex nasal ridge, Flexion cont... |
OMIM:614008 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Choreoathetosis, Elevated circulating alpha-fetoprotein concentration, Elevated ... |
ORPHA:64753 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Delayed cranial suture closure, Hyperlordosis, Brachycephaly, Wide nasal bridge, De... |
ORPHA:2780 |
Sponastrime Dysplasia |
|
Hip subluxation, Hypothyroidism, Aplasia of the nasal bone, Precocious puberty, Hip dislocation, ... |
ORPHA:93357 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hip dislocation, Depressed nasal bridge, Scoliosis, Microcephaly |
OMIM:300434 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Delayed eruption of teeth, Sparse bone ... |
OMIM:264700 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... |
OMIM:277460 |
Summitt Syndrome |
|
Wide nose, Camptodactyly of finger, Genu valgum, Plagiocephaly, Depressed nasal ridge, Macrocepha... |
ORPHA:3210 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Protrusio acetabuli, Increased susceptibility to fractures, Hip contrac... |
OMIM:259450 |
Chromosome 16Q22 Deletion Syndrome |
|
Wide anterior fontanel, Wide nasal bridge, Small for gestational age, Micrognathia, Frontal bossi... |
OMIM:614541 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Microcephaly |
ORPHA:2204 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Wide nasal bridge, Micrognathi... |
OMIM:617952 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, Wide anterior fontanel, Natal tooth, Macrocephaly... |
OMIM:269300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Genu varum, Thin bony cortex, Increased susceptibility to fractures, Delayed e... |
ORPHA:289157 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Micrognathia, Scoliosis, Hy... |
ORPHA:48431 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Underdeveloped nasal alae, Overhanging nasal tip, Anemia, Hyperextensibility of the finger joints... |
ORPHA:163979 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Scaphocephaly, Joint contracture of the hand, Wide nasal bridge, ... |
OMIM:175700 |
Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterol... |
OMIM:616267 |
Alpha-Mannosidosis |
|
Dental malocclusion, Mandibular prognathia, Kyphosis, Arthritis, Type II diabetes mellitus, Macro... |
ORPHA:61 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... |
OMIM:166220 |
Clark-Baraitser syndrome |
|
Genu valgum, Kyphosis, Macrocephaly, Maxillary lateral incisor microdontia, Joint laxity, Frontal... |
OMIM:300602 |
Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Pterygium, Osteoporosis, Scoliosis, Platyspondyly, Joint stiffness... |
ORPHA:2771 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Convex nasal ridge, Kyphosis, Micrognathia, Vertebral segmentation defect, Scoliosis, Microcephal... |
ORPHA:2617 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Delayed eruption... |
ORPHA:2484 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Wide anterior fontanel, Kyphosis, Micrognathia, Macrocephaly, Large for gestationa... |
OMIM:618272 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Cortical irregularity, Scoliosis, Calvarial hyperosto... |
ORPHA:1310 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Large fontanelles, Joint s... |
ORPHA:1525 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint dislocation, Kyphosis, Micrognathia, Increased bone mineral densit... |
ORPHA:628 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Flynn-Aird Syndrome |
|
Kyphosis, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Scoliosis, Abnormal... |
ORPHA:2047 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... |
OMIM:208920 |
Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Delayed eruption of permanent teeth, Scoliosis, Calvarial hyperostosis |
OMIM:112350 |
Craniosynostosis 2 |
|
Brachycephaly, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal synostosis, Trigono... |
OMIM:604757 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Kyphosis, Micrognathia, Short nose, Delayed puberty, Scoliosis, Microcephaly |
ORPHA:2598 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Abnormality of the elbow, Wide anterior fontanel, Kyphosis, Micrognathia... |
ORPHA:3098 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Brachycephaly, Mandibular prognathia, Abnormality ... |
ORPHA:2511 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Bowing of limbs due to multiple fractures, Platybasia, Multiple prenatal fractures, Decreased cal... |
OMIM:259410 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Turricephaly, Wide nasal bridge, Sho... |
OMIM:601224 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Macrocephaly, Short nose, Scoliosis, Truncal obesity |
ORPHA:2429 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Frontal bossing, Rickets, Enlargem... |
OMIM:600081 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long b... |
OMIM:607634 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Mandibular prognathia, Irregul... |
OMIM:231070 |
Atkin-Flaitz Syndrome |
|
Genu valgum, Kyphosis, Macrocephaly, Maxillary lateral incisor microdontia, Joint laxity, Frontal... |
OMIM:300431 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Frontal bossing, Rickets, Enlargem... |
OMIM:241530 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Increased bone mineral den... |
OMIM:614856 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Wide nasal bridge, Joint contracture of the hand, Small for gestational age, Microg... |
ORPHA:352490 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Wide nasal bridge, Delayed eruption of teeth, Kyp... |
ORPHA:137834 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly, Wide nasal bridge, Kyphosis, Small for gestational age, Micrognathia, Prominent na... |
OMIM:615834 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Kyphosis, Frontal bossing, Scoliosis, Obesity |
ORPHA:276630 |
Desbuquois Dysplasia 1 |
|
Advanced ossification of carpal bones, Midface retrusion, Short neck, Advanced tarsal ossificatio... |
OMIM:251450 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Hip dislocation, Scoliosis, Microcephaly, Obesity, Lumbar hyperlordosis |
OMIM:616756 |
Achondroplasia |
|
Short nasal bridge, Wide anterior fontanel, Kyphosis, Flat acetabular roof, Spinal canal stenosis... |
ORPHA:15 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thoracic kyphosis, Thin bony cortex, Wormian bones, Platyspondyly |
OMIM:619638 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Metatropic Dysplasia |
|
Genu valgum, Flexion contracture, Relatively short spine, Abnormal enchondral ossification, Kypho... |
OMIM:156530 |
Eiken Syndrome |
|
Thin bony cortex, Abnormal bone ossification, Absence of the sacrum, Abnormal trabecular bone mor... |
ORPHA:79106 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Kyphosis, Hypogonadism, Micrognathia, Short neck, O... |
ORPHA:3409 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Congenital finger flexion contractures, Foot joint contracture, Flexion... |
ORPHA:536516 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Genu valgum, Thin bony cortex, Generalized bone demineralization, Rickets of the lowe... |
OMIM:600785 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Supernumerary tooth, Joint hypermobility, Agenesis of molar, Delayed puberty, Anosmia, ... |
OMIM:619718 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Trigonocephaly 1 |
|
Wide nasal bridge, Short nose, Lumbar hemivertebrae, Microcephaly, Trigonocephaly, Metopic synost... |
OMIM:190440 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, C... |
OMIM:144750 |
Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Skull asymmetry, Decreased response to growth hormone stimulation test, Wide anter... |
OMIM:601853 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Hip dislocation, Midface retrusion, Premature osteoar... |
ORPHA:93360 |
Smith-Magenis Syndrome |
|
EEG abnormality, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Morphological ab... |
OMIM:182290 |
Bethlem Myopathy 2 |
|
Flexion contracture, Kyphosis, Hip dislocation, Scoliosis, Distal joint laxity |
OMIM:616471 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Retrognathia, Prominent nose, Limited elbow movement, Joint contracture of the hand, K... |
OMIM:300280 |
Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, Wide nasal bridge, Kyphosis, Micrognathia, Camptodactyly, Short neck, Arthrogryposi... |
OMIM:618393 |
Mucopolysaccharidosis Type 4 |
|
Reduced bone mineral density, Genu valgum, Joint dislocation, Hyperlordosis, Kyphosis, Grayish en... |
ORPHA:582 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Delayed cranial suture closure, Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulat... |
OMIM:613038 |
Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Lumbar scoliosis, Kyphosis, Camptodactyly, Depressed nasal bridge, Osteope... |
OMIM:609128 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Narrow nasal ridge, Midface retrusion, Joint hypermobility, Frontal bossing, Congenital hip dislo... |
OMIM:612940 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... |
OMIM:609813 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Elbow flexion contracture, Sc... |
OMIM:600175 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Calvarial osteosclerosis, Cortical thickening of long bone diaphy... |
ORPHA:93324 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Kyphosis, Platyspondyly |
ORPHA:2786 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Brachycephaly, Flexion contracture, Fractured radius, Wide nasal bridge, Small for gestational ag... |
OMIM:616897 |
Cleidocranial Dysplasia |
|
Brachycephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, ... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Recurrent fractures, Wide anterior fontanel, Kyphosis, Joint laxity, P... |
OMIM:610915 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Prominent metopic ridge, Mandibular prognathia, Scoliosis, Kyphosis |
ORPHA:85317 |
Idiopathic Congenital Hypothyroidism |
|
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... |
ORPHA:95717 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures, Wormian bones |
ORPHA:2773 |
Osteogenesis Imperfecta, Type Xi |
|
Brachycephaly, Dentinogenesis imperfecta, Protrusio acetabuli, Increased susceptibility to fractu... |
OMIM:610968 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Scoliosis, Osteoporosis, Kyphosis |
OMIM:618234 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Aplasia of the nasal bone, Convex nasal ridge, Delayed eruption o... |
OMIM:601812 |
Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Mandibular prognathia, Large el... |
OMIM:253000 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Convex nasal ridge, Short nasal bridge, Delayed eruption of primary tee... |
ORPHA:2409 |
Sandhoff Disease |
|
Failure to thrive, Macrocephaly, Splenomegaly, Kyphosis |
ORPHA:796 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Wi... |
OMIM:113000 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Genu valgum, Mandibular prognathia, Plagiocephaly, Thoracic hemivertebrae, Macroce... |
OMIM:619721 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Action tremor, Hypercholesterolemia |
ORPHA:77296 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Small for gestational age, Microretrognathia, Joint hypermobility, Osteopeni... |
OMIM:616229 |
Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Back pain, Limited elbow movement, Kyphosis, Increased head circumference, Lumbar hy... |
ORPHA:94068 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Obesity, Delayed puberty, Scoliosis, Microcephaly, ... |
OMIM:301900 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Abnormal mandible morphology, Hyperpituitarism, Osteolysis, Fibrous dysplasia o... |
ORPHA:249 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Mandibular prognathia, Prominent nose, Depressed nasal rid... |
ORPHA:2769 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased ... |
ORPHA:75840 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Brachycephaly, Wide nasal bridge, Kyphosis, Micrognathia, Depressed... |
OMIM:615761 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Kyphosis, Macrocephaly, Hypoplasia of the maxilla, Scoliosis, Slender buil... |
OMIM:300676 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Retrognathia, Kyphosis, Micrognathia, Short neck, Scoliosis, Microcephaly, Arthrogryposis multipl... |
OMIM:611890 |
Weismann-Netter Syndrome |
|
Anemia, Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormality of the thyroid gland,... |
ORPHA:3344 |
Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Brachycephaly, Recurrent fractures, Turr... |
ORPHA:83 |
Osteogenesis Imperfecta, Type Ii |
|
Convex nasal ridge, Recurrent fractures, Small for gestational age, Multiple prenatal fractures, ... |
OMIM:166210 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Spina bifida occulta, Scoliosis, Micro... |
OMIM:618736 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Delayed eruption of teeth, Turricephaly, Micrognathia, Midface ret... |
ORPHA:2050 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Isosexual precocious puberty, Joint laxity, Frontal bossin... |
ORPHA:2788 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Kyphosis, Spinal rigidity, Joint hypermobility, Scoliosis |
OMIM:618323 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology, Microcephaly |
ORPHA:2512 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Brachycephaly, Increased susceptibility to fractures, Premature thelarche, Sclerotic cranial sutu... |
ORPHA:371428 |
Tenorio Syndrome |
|
Wide nose, Delayed cranial suture closure, Mandibular prognathia, Macrocephaly, Joint laxity, Ost... |
OMIM:616260 |
Mcdonough Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Kyphosis, ... |
ORPHA:2471 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Recurrent upper respiratory tract infections, Hypogonadism |
OMIM:614962 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... |
OMIM:609220 |
Smith-Mccort Dysplasia 1 |
|
Genu varum, Genu valgum, Hypoplastic acetabulae, Delayed femoral head ossification, Kyphosis, Hyp... |
OMIM:607326 |
Coffin-Siris Syndrome 6 |
|
Retrognathia, Plagiocephaly, Micrognathia, Frontal bossing, Depressed nasal bridge, Kyphoscoliosi... |
OMIM:617808 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Increased bone mineral density, Stiff knee, Premature osteoarthritis, Short n... |
ORPHA:93284 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Severe platyspondyly, Small for gestational age, Short nose, Frontal bossing, Depresse... |
OMIM:613320 |
Acrodysostosis With Multiple Hormone Resistance |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Hypogonadism, Narro... |
ORPHA:280651 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... |
ORPHA:95716 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Kyphosis, Hypogonadism, Short nose, Spina bifida occulta, Short neck, Reduced bone m... |
ORPHA:2983 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Hypogonadism, Joint hyperflexibility, Kyphosis |
ORPHA:1875 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Mandibular prognathia, Kyphosis, Hypogonadism, Osteopetrosis, Inc... |
ORPHA:2658 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Kyphosis, Spinal rigidity, Scoliosis, Microcephaly |
OMIM:617404 |
Craniosynostosis 4 |
|
Retrognathia, Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Macrocephaly, M... |
OMIM:600775 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Plagiocephaly, Depressed nasal ridge, Kyphosis, Wide nasal bridge, Mic... |
ORPHA:77300 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Flexion contracture, Kyphosis, Spinal rigidity, Short neck, Scoliosis |
OMIM:300718 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed closure of the anterior fontanelle, Hyperextensibility of the finger joints, Delayed erup... |
OMIM:619797 |
Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Dental malocclusion, Brachycephaly, Wide anterior fontanel, Kypho... |
OMIM:249420 |
Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia |
OMIM:616222 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Anterior hypopituitarism, ... |
ORPHA:2863 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi... |
ORPHA:247585 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Thickened calvaria, Recurrent fractures, Osteopenia, Scoliosis, Platyspondyly, Carious teeth, Ost... |
OMIM:126550 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Failure to thrive, Progressive microcephaly, Kyphosis |
OMIM:620007 |
Congenital Disorder Of Glycosylation, Type Il |
|
Brachycephaly, Kyphosis, Hip dislocation, Short nose, Hepatosplenomegaly, Failure to thrive, Depr... |
OMIM:608776 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Kyphosis, Dolichocephaly, Short neck, Scoliosis, Prominent nasal bridge, Art... |
ORPHA:178148 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Galactokinase Deficiency |
|
Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Hyp... |
ORPHA:79237 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Osteolysis |
OMIM:174810 |
Ruvalcaba Syndrome |
|
Underdeveloped nasal alae, Kyphosis, Delayed puberty, Narrow nose, Scoliosis, Microcephaly, Limit... |
OMIM:180870 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Convex nasal ridge, Kyphosis, Micrognathia, Male hypogonadism, Diabetes mellitus, Scoliosis, Join... |
OMIM:615381 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Head titubatio... |
ORPHA:3240 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Midface retrusion, Lumbar interpedicular narrowing, Limited elbow extension, Lumbar hyperlordosis... |
OMIM:271510 |
Masa Syndrome |
|
Hyperlordosis, Macrocephaly, Microcephaly, Kyphosis |
OMIM:303350 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Genu varum, Increased intervertebral space, Abnormal enchondral ossification, Kyphosis, Lumbar hy... |
ORPHA:93314 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Delayed eruption of teeth, Rickets of the lower limbs, Increased bone mineral density... |
ORPHA:289176 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Kyphosis, Increased circulating cortisol level, Decreased cir... |
OMIM:610489 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Joint hyperflexibility, Kyphosis, Microcephaly |
ORPHA:319199 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Increased susceptibility to fractures, Otosclerosis, Recurrent fractur... |
OMIM:166200 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Micrognathia,... |
OMIM:613848 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... |
OMIM:619260 |
Megalocornea-Intellectual Disability Syndrome |
|
Genu varum, Hypothyroidism, Wide nasal bridge, Kyphosis, Micrognathia, Macrocephaly, Frontal boss... |
ORPHA:2479 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Convex nasal ridge, Kyphosis, Micrognathia, Fused cervical vertebrae, Short neck, ... |
ORPHA:2522 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hip dislocation, Osteopenia, Microcephaly, Wormian bones |
OMIM:616603 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Joint hypermobility, Scoliosis, Platyspondyly, Osteoporosis, Wormian bones |
OMIM:619131 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Kyphosis, Micrognathia, Craniofacial hyperostosis, Dolichocephaly, Short neck, Joi... |
ORPHA:2789 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Parietal foramina, Plagiocephaly, Wide anterior fo... |
ORPHA:85199 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Brachycephaly, Narrow nasal ridge, Hip dislocation, Joint hypermobility, Frontal bossing, Congeni... |
OMIM:219150 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Kyphosis |
OMIM:618453 |
Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Genu valgum, Mandibular prognathia, Kyphosis, Grayish enamel, Ulnar deviation of t... |
OMIM:253010 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Brachycephaly, Thin bony cortex, Mandibular prognathia, Recurrent fractures, Hyperextensibility o... |
OMIM:309583 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Genu valgum, Prominent nose, Increased circulating androgen concentration, Abnormal mandible cond... |
ORPHA:2976 |
Crisponi Syndrome |
|
Wide nose, Camptodactyly of finger, Flexion contracture, Kyphosis, Micrognathia, Limitation of jo... |
ORPHA:1545 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Flexion contracture, Multiple joint contractures, Kyphosis, Micrognathia, Macrocep... |
OMIM:618291 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Cleidocranial Dysplasia 1 |
|
Wide nasal bridge, Micrognathia, Increased bone mineral density, Hip dislocation, Midface retrusi... |
OMIM:119600 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Micrognathia, Synostosis of carpal bones, Type II diabetes mellitus, Short neck, Scolio... |
ORPHA:3191 |
Six2-Related Frontonasal Dysplasia |
|
Wide anterior fontanel, Small for gestational age, Macrocephaly, Premature posterior fontanelle c... |
ORPHA:488437 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Achilles tendon contracture, ... |
OMIM:615290 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Mandibular prognathia, Kyphosis, Elbow flexion contracture, Flexion con... |
OMIM:619040 |
Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Brachycephaly, Parietal foramina, Kyph... |
OMIM:603116 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micro... |
OMIM:610475 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture, Broad nasal tip, Wide nasal bridge |
OMIM:618658 |
Thanatophoric Dysplasia |
|
Kyphosis, Macrocephaly, Midface retrusion, Frontal bossing, Cloverleaf skull, Depressed nasal bri... |
ORPHA:2655 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed cranial suture closure, Hyperinsulinemia, Flexion contracture, Narrow nasal ridge, Acroos... |
OMIM:608612 |
Pseudoachondroplasia |
|
Genu varum, Genu valgum, Kyphosis, Ulnar deviation of the wrist, Lumbar hyperlordosis, Osteoarthr... |
OMIM:177170 |
Osteogenesis Imperfecta, Type Xx |
|
Retrognathia, Brachycephaly, Mandibular prognathia, Plagiocephaly, Midface retrusion, Vertebral c... |
OMIM:618644 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Microcephaly, Scoliosis, Joint stiffness, Abnormal dental enamel morphology |
ORPHA:816 |
Stickler Syndrome, Type I |
|
Morbus Scheuermann, Arthropathy, Kyphosis, Micrognathia, Arthritis, Midface retrusion, Joint hype... |
OMIM:108300 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Sea-blue histiocytosis, Hypoplastic vertebral bodies, Failure to thrive, Scolio... |
OMIM:230600 |
Schaaf-Yang Syndrome |
|
Retrognathia, Mandibular prognathia, Flexion contracture, Kyphosis, Hypogonadism, Camptodactyly, ... |
OMIM:615547 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, EEG abnormality, Hypercholesterolemia, Retinal detachment, Hypertr... |
ORPHA:819 |
Osteogenesis Imperfecta |
|
Brachycephaly, Convex nasal ridge, Flexion contracture, Delayed eruption of teeth, Micrognathia, ... |
ORPHA:666 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circu... |
OMIM:219080 |
Van Maldergem Syndrome 1 |
|
Sacral dimple, Dental malocclusion, Wide anterior fontanel, Wide nasal bridge, Micrognathia, Camp... |
OMIM:601390 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, Hypothyroidism, Wide nasal bridge, Hip dislocation, Short nose, Failure to thrive, ... |
OMIM:618005 |
Hallermann-Streiff Syndrome |
|
Brachycephaly, Micrognathia, Scaphocephaly, Dolichocephaly, Supernumerary tooth, Frontal bossing,... |
OMIM:234100 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Pelger-Huet Anomaly |
|
Kyphosis, Macrocephaly, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Fronta... |
OMIM:169400 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Micrognathia, Midface retrusion, Frontal bossing, Short nose, Thi... |
ORPHA:1129 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Midface re... |
OMIM:619322 |
Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Micrognathia, Prominent oc... |
ORPHA:955 |
Menkes Disease |
|
Brachycephaly, Joint laxity, Microcephaly, Osteoporosis, Wormian bones |
OMIM:309400 |
19P13.12 Microdeletion Syndrome |
|
Brachycephaly, Hypothyroidism, Precocious puberty, Kyphosis, Narrow nasal bridge, Short neck, Sco... |
ORPHA:254346 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Biconcave vertebral bodies, Short nasal bridge, Kyphosis, Micrognathia, Dolicho... |
OMIM:130720 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Irregular vert... |
OMIM:224300 |
Caffey Disease |
|
Joint hypermobility, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis,... |
OMIM:114000 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, Pr... |
ORPHA:357058 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Macrocephaly, Wide anterior fontanel, Wormian bones, Platyspondyly |
OMIM:601356 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Kyphosis, Short nose, Depressed nasal bridge, Scoliosis, Microcephaly, Pro... |
ORPHA:261144 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic disc pallor, Optic atrophy |
OMIM:609541 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Kyphosis, Midface retrusion, Scoliosis, Microcephaly |
OMIM:617768 |
O'Donnell-Luria-Rodan Syndrome |
|
Macrocephaly, Dolichocephaly, Kyphosis |
OMIM:618512 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra... |
OMIM:102500 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Retrognathia, Delayed cranial suture closure, Prominent nose, Wide nasal bridge, Micro... |
ORPHA:2995 |
3M Syndrome |
|
Hyperlordosis, Increased vertebral height, Abnormality of the elbow, Kyphosis, Delayed eruption o... |
ORPHA:2616 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Kyphosis, Delayed eruption of teeth |
OMIM:141300 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Wieacker-Wolff Syndrome |
|
Retrognathia, Hyperlordosis, Congenital foot contractures, Kyphosis, Micrognathia, Camptodactyly,... |
OMIM:314580 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Arthropathy, Arthritis, Limitation of joint mobi... |
OMIM:259100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Kyphosis, Hypogonadism, Relative macrocephaly, Joint laxity, Depressed nas... |
OMIM:300354 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Prominent nose, Abnormality of the elbow, Kyphosis, Turricephaly, Vertebral segmentation defect, ... |
ORPHA:1005 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
Oculodentodigital Dysplasia |
|
Underdeveloped nasal alae, Camptodactyly of finger, Mandibular prognathia, Madelung deformity, Mi... |
ORPHA:2710 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Severe platyspondyly, T lymphocytopenia, Micrognathia, Elbow flexion contracture, Decreased propo... |
ORPHA:508533 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar dislocation, Kyphosis, Elbow dis... |
ORPHA:2916 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Flexion contracture, Kyphosis |
OMIM:618237 |
Fgfr2-Related Bent Bone Dysplasia |
|
Metopic depression, Natal tooth, Coronal craniosynostosis, Micrognathia, Midface retrusion, Hepat... |
ORPHA:313855 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic disc pallor, Optic atrophy |
ORPHA:320406 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Dolichocephaly, Scoliosis, Kyphosis |
ORPHA:1548 |
Craniolenticulosutural Dysplasia |
|
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Wide nasal bridge, Delayed er... |
OMIM:607812 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture, Kyphosis, Small for gestational age, Flexion contracture of finger, Kyphosco... |
OMIM:618484 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Brachycephaly, Flexion contracture, Hip contracture, Kyphosis, Achilles tendon contracture, Hip d... |
OMIM:301041 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis |
ORPHA:85193 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Delayed cranial suture closure, Hyperinsulinemia, Convex nasal ridge, Flexion contracture, Narrow... |
OMIM:248370 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Knee flexion contracture, Genu valgum, Flexion contracture, Sacral dimpl... |
ORPHA:3206 |
Sialidosis Type 2 |
|
Splenomegaly, Flexion contracture, Osteoporosis, Kyphosis |
ORPHA:87876 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Flexion contracture, Plagiocephaly, Wide nasal bridge, Short nose... |
OMIM:619383 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Mandibular prognathia, Scoliosis, Kyphosis |
ORPHA:1858 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Scaphocephaly, Plagiocephaly, Wide nasal bridge, Frontal bossing, Wide crani... |
OMIM:619149 |
Shashi-Pena Syndrome |
|
Retrognathia, Cervical C2/C3 vertebral fusion, Kyphosis, Macrocephaly, Broad nasal tip, Scoliosis... |
OMIM:617190 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Hyposmia, Anosmia, Obesity |
OMIM:617885 |
Pachydermoperiostosis |
|
Genu varum, Splenomegaly, Anemia, Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Li... |
ORPHA:2796 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Humeroradial synostosis, Micrognathia, Elbow flexion contracture,... |
OMIM:151050 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Thin bony cortex, Micrognathia, Cuboid-shaped vertebral bodies, Hyperplasia ... |
OMIM:612731 |
Parietal Foramina 1 |
|
Parietal foramina, Macrocephaly, Wormian bones |
OMIM:168500 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Genu valgum, Mandibular prognathia, Thickened calvaria, Kyphosis, Thoracic kyphosis, ... |
OMIM:223800 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Thoracic kyphosis, Hypoplasia of the odontoid process, Midface retrusion, De... |
OMIM:300232 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Dental malocclusion, Sacral dimple, Wide anterior fontanel, Wide nasal bridge, M... |
OMIM:615546 |
Apert Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Humeroradial synostosis, Delayed eruption of teeth... |
OMIM:101200 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Relative macrocephaly, Macrocephal... |
OMIM:239000 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Brachycephaly, Convex nasal ridge, Plagiocephaly, ... |
ORPHA:794 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Kyphosis, Small for gestational age, Joint... |
ORPHA:94065 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Camurati-Engelmann Disease |
|
Hyperlordosis, Genu valgum, Leukopenia, Anemia, Slender build, Kyphosis, Delayed eruption of teet... |
ORPHA:1328 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Kyphosis, Macrocephaly, Frontal bossing, Cloverleaf skull, Depressed nasa... |
ORPHA:1860 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... |
ORPHA:85188 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Kyphosis, Micrognathia, Joint hypermobility, Depressed nasal bridge, Sco... |
OMIM:619951 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Convex nasal ridge, Decreased body weight, Micro... |
ORPHA:79474 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Hyperparathyroidism, Transient Neonatal |
|
Brachycephaly, Short nasal bridge, Recurrent fractures, Wide nasal bridge, Splenic cyst, Frontal ... |
OMIM:618188 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Mandibular prognathia, Depressed nasal ridge, Weight loss... |
ORPHA:354 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Kyphosis, Frontal bossing, Scoliosis, Joint hyperflexibility |
ORPHA:2181 |
Trisomy 20P |
|
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Kyphosis, Micrognathia, Vertebral segmenta... |
ORPHA:261318 |
Kbg Syndrome |
|
Underdeveloped nasal alae, Vertebral fusion, Prominent nasal bridge, Thoracic kyphosis, Short nec... |
ORPHA:2332 |
Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Scoliosis, Platyspondyly |
OMIM:230650 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly, Wide nasal bridge, Kyphosis, Spinal rigidity, Micrognathia, Depressed nasal bridge... |
ORPHA:2062 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight l... |
ORPHA:2298 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Puberty and gonadal disorders, Scoliosis, Microcephaly, Obesity |
ORPHA:464282 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Kyphosis, Delayed calcaneal ossification, Hypoplasia of the odontoid proc... |
OMIM:183900 |
Grant Syndrome |
|
Micrognathia, Wormian bones |
OMIM:138930 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
D-Bifunctional Protein Deficiency |
|
Retrognathia, Delayed cranial suture closure, Scaphocephaly, Micrognathia, Macrocephaly, Dolichoc... |
OMIM:261515 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Kyphosis, Vertebral segmentation defect, Macrocephaly, Prominent occiput... |
ORPHA:2311 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Mandibuloacral Dysplasia |
|
Delayed cranial suture closure, Hyperinsulinemia, Contractures of the large joints, Acroosteolysi... |
ORPHA:2457 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Kyphosis, Increased bone mineral density, Hypersplenism, Pancytopenia, Osteol... |
ORPHA:77259 |
Ruvalcaba Syndrome |
|
Convex nasal ridge, Abnormality of the elbow, Kyphosis, Synostosis of carpal bones, Short nose, D... |
ORPHA:3121 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Enlargement... |
OMIM:300554 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Prominent nose, Kyphosis, Hypogonadism, Cachexia, Biparietal narrowing, ... |
ORPHA:85293 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scolio... |
OMIM:606612 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased laxity of fingers, Spinal ... |
OMIM:254090 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Brachycephaly, Mandibular prognathia, Macrodontia of permanent maxillary central incisor, Kyphosi... |
ORPHA:364028 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Anemia, Calvarial osteosclerosis, Cortical thickening of long bon... |
ORPHA:93325 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Macrocephaly, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal scl... |
OMIM:618476 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Cognitive impairment, Macular edema, Apathy, Retinal cotton wool spot, Retinal neovascularization... |
ORPHA:247691 |
Hurler Syndrome |
|
Biconcave vertebral bodies, Flexion contracture, Wide nasal bridge, Kyphosis, Hypoplasia of the o... |
OMIM:607014 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Macrocephaly, Limitation of joint mobility, Frontal bossing, Cloverleaf skull, Depresse... |
ORPHA:93274 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Frontal bossing, Depressed nasal bridge, Short neck, Large fontanelles, Scoliosis |
ORPHA:238750 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Decreased body weight, Micrognathia, Increased bone mineral density, C... |
ORPHA:800 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed cranial suture closure, Midface retrusion, Thyroid hypoplasia, Large posterior fontanelle... |
ORPHA:226307 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Hyperinsulinemia, Kyphosis, Type II diabetes mellitus, Hypergonadotropic hypogonad... |
ORPHA:3085 |
Zimmermann-Laband Syndrome 2 |
|
Underdeveloped nasal alae, Kyphosis, Prominent nasal septum, Short neck, Bifid nasal tip |
OMIM:616455 |
Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Protrusio acetabuli, Recurrent fractures, Wide anterior fontanel,... |
OMIM:610682 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Scoliosis, Kyphosis |
OMIM:300861 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Marshall-Smith Syndrome |
|
Decreased body weight, Atlantoaxial dislocation, Midface retrusion, Prominent occiput, Choanal at... |
OMIM:602535 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Thoracolumbar scoliosis, Genu valgum, Joint dislocation, Hyperlordosis,... |
OMIM:618019 |
Marden-Walker Syndrome |
|
Wide anterior fontanel, Joint contracture of the hand, Kyphosis, Micrognathia, Radioulnar synosto... |
OMIM:248700 |
Silver-Russell Syndrome |
|
Delayed cranial suture closure, Precocious puberty, Micrognathia, Cachexia, Relative macrocephaly... |
ORPHA:813 |
Campomelic Dysplasia |
|
Tracheobronchomalacia, Recurrent fractures, Kyphosis, Micrognathia, Macrocephaly, Hip dislocation... |
ORPHA:140 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Kyphosis, Failure to thrive, Scoliosis, Hypergonadotropic hypogonadism, Micr... |
OMIM:248800 |
Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Joint contracture of the hand, Camptodactyly, Widely patent sagittal sutu... |
OMIM:228520 |
Wrinkly Skin Syndrome |
|
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Scaphocephaly, Wide a... |
OMIM:278250 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Craniosynostosis, Midface retrusion, Joint hypermobility, Failure to thrive, Broad nasa... |
OMIM:618050 |
Trisomy 9P |
|
Sacral dimple, Brachycephaly, Kyphosis, Abnormal nasal morphology, Short neck, Scoliosis, Microce... |
ORPHA:236 |
Silver-Russell Syndrome 1 |
|
Delayed cranial suture closure, Decreased response to growth hormone stimulation test, Small for ... |
OMIM:180860 |
Typical Nemaline Myopathy |
|
Genu varum, Genu valgum, Flexion contracture, Hyperlordosis, Kyphosis, Spinal rigidity, Micrognat... |
ORPHA:171436 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Kyphosis, Scoliosis, Joint contracture of the 5th finger, Carious teeth |
ORPHA:1883 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary gonadal insufficiency, Decreased serum estradiol, Kyphosis, Absence of secondary sex char... |
ORPHA:2232 |
Hypomelanosis Of Ito |
|
Macrocephaly, Scoliosis, Kyphosis, Microcephaly |
OMIM:300337 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Megalocornea-Mental Retardation Syndrome |
|
Large fleshy ears, Cupped ear, Hypercholesterolemia |
OMIM:249310 |
Immunodeficiency 49 |
|
T lymphocytopenia, Natal tooth, Micrognathia, Decreased proportion of naive CD4 T cells, Lymphope... |
OMIM:617237 |
3C Syndrome |
|
Wide nasal bridge, Kyphosis, Micrognathia, Macrocephaly, Prominent occiput, Short nose, Frontal b... |
ORPHA:7 |
Cdkl5-Deficiency Disorder |
|
Scoliosis, Kyphosis |
ORPHA:505652 |
Harrod Syndrome |
|
Dental malocclusion, Kyphosis, Failure to thrive, Joint hyperflexibility, Scoliosis, Long nose, M... |
ORPHA:2115 |
De Barsy Syndrome |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Generalized joint laxity, Delayed erup... |
ORPHA:2962 |
Ogden Syndrome |
|
Underdeveloped nasal alae, Delayed cranial suture closure, Enlarged naris, Microretrognathia, Fro... |
ORPHA:276432 |
Isolated Arrhinia |
|
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... |
ORPHA:1134 |
Distal Tetrasomy 15Q |
|
Retrognathia, Flexion contracture, Kyphosis, Micrognathia, Camptodactyly, Large for gestational a... |
ORPHA:314588 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Short neck, Scoliosis, Joint stiffness |
OMIM:252605 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
EEG with generalized slow activity, Macrotia, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Prader-Willi Syndrome |
|
Genu valgum, Precocious puberty, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
OMIM:176270 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hand tremor, Optic nerve h... |
ORPHA:101085 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed cranial suture closure, Increased circulating prolactin concentration, Increased pituitar... |
ORPHA:90674 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Retrognathia, Scaphocephaly, Narrow nasal ridge, Hyperextensibility of the finger joints, Kyphosi... |
OMIM:616914 |
Emanuel Syndrome |
|
Sacral dimple, Broad jaw, Delayed eruption of primary teeth, Kyphosis, Micrognathia, Recurrent si... |
OMIM:609029 |
Fountain Syndrome |
|
Kyphosis, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Midface retrusion, Mac... |
ORPHA:3219 |
Koolen-De Vries Syndrome |
|
Underdeveloped nasal alae, Hypothyroidism, Vertebral fusion, Wide nasal bridge, Kyphosis, Vertebr... |
ORPHA:96169 |
Hennekam-Beemer Syndrome |
|
Wide nose, Delayed cranial suture closure, Camptodactyly of finger, Wide nasal bridge, Micrognath... |
ORPHA:2135 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Mucopolysaccharidosis Type 6 |
|
Genu valgum, Splenomegaly, Kyphosis, Failure to thrive, Short neck, Recurrent upper respiratory t... |
ORPHA:583 |
Cohen Syndrome |
|
Failure to thrive in infancy, Genu valgum, Neutropenia, Kyphosis, Micrognathia, Hypoplasia of the... |
ORPHA:193 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Genu valgum, Flexion contracture, Kyphosis, Hypoplasia of t... |
OMIM:253220 |
Coffin-Lowry Syndrome |
|
Wide nose, Kyphosis, Delayed eruption of teeth, Advanced eruption of teeth, Craniofacial hyperost... |
ORPHA:192 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Hyperextensibility of the finger joints, Kyphosis, Hip dislocation, Joint hypermob... |
OMIM:617821 |
Asparagine Synthetase Deficiency |
|
EEG with burst suppression, Hypsarrhythmia, Exaggerated startle response, Macrotia |
OMIM:615574 |
Mgat2-Cdg |
|
Convex nasal ridge, Kyphosis, Dolichocephaly, Recurrent upper and lower respiratory tract infecti... |
ORPHA:79329 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Convex nasal ridge, Delayed eruption of teeth, Midface retrusion, Prominent metopi... |
OMIM:614188 |
Baralle-Macken Syndrome |
|
Obesity, Microcephaly, Kyphosis |
OMIM:619255 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Sacral dimple, Shoulder dislocation, Radioulnar dislocation, Joint dislocation, Kyphosis, Microgn... |
ORPHA:536532 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Genu valgum, Kyphosis, Micrognathia, Scoliosis, Anteverte... |
OMIM:618443 |
Keppen-Lubinsky Syndrome |
|
Underdeveloped nasal alae, Flexion contracture, Narrow naris, Micrognathia, Failure to thrive, Na... |
OMIM:614098 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Kyphosis, Micrognathia, Frontal bossing, Narrow nasal bridge, Short neck |
ORPHA:3082 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Gapo Syndrome |
|
Delayed cranial suture closure, Eruption failure, Delayed closure of the anterior fontanelle, Pla... |
OMIM:230740 |
2P15P16.1 Microdeletion Syndrome |
|
Retrognathia, Camptodactyly of finger, Brachycephaly, Patellar dislocation, Wide nasal bridge, Ky... |
ORPHA:261349 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set ears, Exaggerated startle response, Posteriorly rotated ears |
OMIM:618598 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Narro... |
ORPHA:280365 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Aspartylglucosaminuria |
|
Anterior beaking of lumbar vertebrae, Mandibular prognathia, Wide nasal bridge, Arthritis, Abnorm... |
ORPHA:93 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Abnormal mandible morphology, Plagiocephaly, Kyphosis, Advanced eruption... |
ORPHA:2215 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Genu valgum, Mandibular prognathia, Hip contracture, Finger joint hypermobility, Kyphosis, Elbow ... |
OMIM:618493 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Kyphosis, Increased circulating ACTH level, Pituitary adenoma, Verteb... |
OMIM:219090 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Abse... |
ORPHA:90321 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Choanal stenosis, Metopic suture patent to nasal root, Midface retrusion... |
OMIM:269150 |
Dent Disease 1 |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Enlargement... |
OMIM:300009 |
Hutchinson-Gilford Progeria Syndrome |
|
Convex nasal ridge, Narrow nasal tip, Pubertal developmental failure in females, Delayed eruption... |
ORPHA:740 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... |
OMIM:313400 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Shoulder dislocation, Flexion contracture, Delayed eruption of teeth, El... |
OMIM:143095 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Underdeveloped nasal alae, Decreased body weight, Plagiocephaly, Kyphosis, Micrognathia, Dolichoc... |
OMIM:619005 |
Stickler Syndrome |
|
Micrognathia, Cachexia, Hip dislocation, Midface retrusion, Slender build, Abnormal form of the v... |
ORPHA:828 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Kyphosis, Hyperextensibility of the finger joints, Scoliosis, Genu recurvatum |
OMIM:609008 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, Wide nasal bridge, Kyphosis, Micrognathia, Midface retrusion, Short nose, Depressed... |
OMIM:617061 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Wide anterior fontanel, Kyphosis, Macrocephaly, Midface retrusion, Frontal bossing... |
OMIM:616482 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Congenital foot contractures, Limitation of joint mobility |
ORPHA:3454 |
White-Sutton Syndrome |
|
Brachycephaly, Mandibular prognathia, Micrognathia, Joint laxity, Failure to thrive, Depressed na... |
OMIM:616364 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
15Q14 Microdeletion Syndrome |
|
Convex nasal ridge, Kyphosis, Biparietal narrowing, Scoliosis, Microcephaly, Prominent nasal bridge |
ORPHA:261190 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Gm1-Gangliosidosis, Type I |
|
Depressed nasal ridge, Kyphosis, Hypoplastic vertebral bodies, Frontal bossing, Short neck, Scoli... |
OMIM:230500 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Flexion contracture, Precocious puberty, Kyphosis, Hypogonadism, Hypothal... |
ORPHA:398069 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Delayed cranial suture closure, Knee flexion contracture, Hip contracture, Micrognathia, Severe g... |
OMIM:210730 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Narrow maxilla, Kyphosis, Camptodactyly, Short nose, Joint hypermobility, Failure to thrive, Fron... |
OMIM:617602 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Rett Syndrome |
|
Increased serum leptin, Primary microcephaly, Failure to thrive, Progressive microcephaly, Scoliosis |
ORPHA:778 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Dubowitz Syndrome |
|
Delayed cranial suture closure, Sacral dimple, Anemia, Wide anterior fontanel, Delayed eruption o... |
ORPHA:235 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Scoliosis, Kyphosis |
OMIM:618124 |
Arthrogryposis, Distal, Type 5 |
|
Congenital finger flexion contractures, Distal arthrogryposis, Kyphosis, Limited wrist extension,... |
OMIM:108145 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Joint hypermobility, Short nose, Failure to thrive, Depressed nasal bridge, Scoliosis, ... |
OMIM:617988 |
Alstrom Syndrome |
|
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... |
OMIM:203800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Kyphosis, Prominent protruding coccyx, Microretrognathia, Joint hypermobility, Sho... |
OMIM:300966 |
Alg9-Cdg |
|
Underdeveloped nasal alae, Delayed cranial suture closure, Brachycephaly, Convex nasal ridge, Abn... |
ORPHA:79328 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Diamond-Blackfan Anemia 1 |
|
Retrognathia, Delayed cranial suture closure, Parietal foramina, Depressed nasal ridge, Reticuloc... |
OMIM:105650 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Microcephaly, Hypergonadotropic hypogo... |
OMIM:615084 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Wide nasal bridge, Micrognathia, Midface retrusion, Dislocated ra... |
OMIM:268310 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Scoliosis, Kyphosis |
OMIM:617435 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contracture, Achilles tendon c... |
ORPHA:98855 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Kyphosis, Micrognathia, Depressed nasal bridge, Contracture of the dista... |
OMIM:607015 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly, Wide nasal bridge, Kyphosis, Abnormal nasal morphology, Micrognathia, Depressed na... |
ORPHA:404440 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Brachycephaly, Decreased response to growth hormone stimulation test, T lymphocytopenia, Kyphosis... |
OMIM:618223 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contracture, Achilles tendon c... |
ORPHA:98863 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Anemia, Flexion contracture, Hip contracture, Irregular vertebral endplates, Kyphosis, Posterior ... |
ORPHA:3042 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Scoliosis, Kyphosis |
OMIM:614409 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Small for gestational age, Pear-shaped nose, Hip dislo... |
OMIM:610443 |
Sialidosis Type 1 |
|
Kyphosis, Wide nasal bridge, Frontal bossing, Scoliosis, Splenomegaly, Abnormal form of the verte... |
ORPHA:812 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Joint stiffness, Large fontanelles, Elbow dislocation |
ORPHA:2249 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Micrognathia, Thyroiditis, Hypoplasia of the maxilla, ... |
OMIM:615108 |
Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Mandibular prognathia, Flexion contracture, Delayed eruption of primary teeth,... |
ORPHA:90322 |
Micro Syndrome |
|
Wide nasal bridge, Kyphosis, Micrognathia, Short nose, Delayed puberty, Scoliosis, Anteverted nar... |
ORPHA:2510 |
Spondyloenchondrodysplasia |
|
Dental malocclusion, Hypothyroidism, Decreased response to growth hormone stimulation test, Kypho... |
ORPHA:1855 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:253800 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Alg1-Cdg |
|
Kyphosis, Progressive microcephaly, Scoliosis, Limitation of joint mobility |
ORPHA:79327 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Cachexia, Scoliosis, Microcephaly, Joint stiffness, Failure to thrive in infancy |
ORPHA:702 |
Trisomy 10P |
|
Retrognathia, Primary microcephaly, Small for gestational age, Micrognathia, Abnormal hip joint m... |
ORPHA:171929 |
Kenny-Caffey Syndrome, Type 2 |
|
Delayed closure of the anterior fontanelle, Anemia, Small for gestational age, Increased bone min... |
OMIM:127000 |
Monosomy 9Q22.3 |
|
Kyphosis, Delayed eruption of teeth, Macrocephaly, Large for gestational age, Short nose, Short n... |
ORPHA:77301 |
Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contracture, Achilles tendon c... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Elbow flexion contracture, Achilles tendon c... |
ORPHA:98853 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Micrognathia, Thyroiditis, Hypoplasia of the maxilla, ... |
OMIM:615109 |
Spondyloperipheral Dysplasia |
|
Irregular vertebral endplates, Kyphosis, Flat acetabular roof, Midface retrusion, Platyspondyly, ... |
OMIM:271700 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Recurrent fractures, Severe pl... |
OMIM:259770 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Plagiocephaly, Radioulnar synostosis, Camptodactyl... |
ORPHA:1272 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis |
OMIM:255200 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Delayed eruption of teeth, Micrognathia, Camptodactyly, Midface retrusion... |
ORPHA:798 |
Hartsfield Syndrome |
|
Wide nose, Diabetes insipidus, Hypoplasia of the frontal bone, Gonadotropin deficiency, Microceph... |
OMIM:615465 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Kyphosis, Micrognathia, Thyroiditis, Lymphopenia, Hypoplasia of ... |
OMIM:158350 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Delayed cranial suture closure, Hypothyroidism, Anemia, Scaphocephaly, Micrognathia, Lymphopenia,... |
OMIM:620005 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Obtuse angle of mandible, Genu valgum, Osteolytic defects of the ... |
OMIM:309350 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Hypercholesterolemia |
OMIM:619471 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thin bony cortex, Thickened calvaria, Increased intervertebral space, Wide nasal bridge, Macrocep... |
OMIM:619727 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Exaggerated startle response, Optic atrophy, Tremor, Larynge... |
ORPHA:845 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Splenomegaly, Hip contracture, Weight loss, Kyphosis, Hip dislocation, ... |
ORPHA:576 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Elbow flexion contracture, Kyphosis |
OMIM:618138 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Microcephaly, Hypergonadotropic hypogo... |
ORPHA:352447 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Low-set ears, Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Alexander Disease |
|
Hyperlordosis, Hypothyroidism, Precocious puberty, Kyphosis, Macrocephaly, Frontal bossing, Failu... |
ORPHA:58 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Dystonia, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Occipital Horn Syndrome |
|
Delayed cranial suture closure, Genu valgum, Kyphosis, Osteomalacia, Hip dislocation, Abnormality... |
ORPHA:198 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Mandibular prognathia, Insulin-resistant diabetes mellitus at puberty, Decrease... |
OMIM:608594 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis |
OMIM:614898 |
Marfan Syndrome |
|
Retrognathia, Protrusio acetabuli, Limited elbow movement, Kyphosis, Micrognathia, Cachexia, Doli... |
ORPHA:558 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip... |
OMIM:252100 |
Cockayne Syndrome B |
|
Dental malocclusion, Splenomegaly, Mandibular prognathia, Delayed eruption of primary teeth, Kyph... |
OMIM:133540 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Oxycephaly, Convex nasal ridge, Plagiocephaly, Sku... |
OMIM:101400 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Lo... |
ORPHA:521426 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Acroosteolysis of distal phalanges (feet), Limitation of joint mobility, Ost... |
ORPHA:90153 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Kyphosis, Macrocephaly, Frontal bossing, Thoracic scoliosis |
OMIM:603387 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Flexion contracture, Kyphosis, Failure to thrive, Depressed nasal bridge, Osteope... |
OMIM:212065 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Underdeveloped nasal alae, Delayed cranial suture closure, Genu valgum, Osteolytic defects of the... |
OMIM:619127 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
16P13.2 Microdeletion Syndrome |
|
Brachycephaly, Flexion contracture, Plagiocephaly, Kyphosis, Hypogonadism, Relative macrocephaly,... |
ORPHA:500055 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Kyphosis, Micrognathia, Vertebral segmentation defect, Short neck, Scoli... |
ORPHA:251014 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Kyphosis, Reduced alpha/beta synthesis ratio, Midface retrusion, Short nos... |
OMIM:301040 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Scaphocephaly, Kyphosis, Delayed eruption of teeth, M... |
OMIM:309900 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Mandibular prognathia, Insulin-resistant diabetes mellitus at puberty, Type II ... |
OMIM:269700 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Midface retrusion, Failure to thrive, Short neck, Scoliosis, Anteverted nares |
ORPHA:420794 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level |
OMIM:615238 |
Zttk Syndrome |
|
Flexion contracture, Wide nasal bridge, Kyphosis, Relative macrocephaly, Midface retrusion, Macro... |
OMIM:617140 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Resting tremor, Abnormal auditory ... |
ORPHA:909 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis |
ORPHA:99014 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosi... |
ORPHA:958 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... |
ORPHA:470 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Micrognathia, Biparietal narrowing, Frontal bossing, Scoliosis, Anteverted nares, Incre... |
ORPHA:261250 |
Coffin-Siris Syndrome 12 |
|
Delayed cranial suture closure, Hip subluxation, Hypothyroidism, Micrognathia, Prominent nasal ti... |
OMIM:619325 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Dental malocclusion, Wide nasal bridge, Kyphosis, Micrognathia, Macrocephaly, Camp... |
OMIM:616894 |
Wrinkly Skin Syndrome |
|
Delayed closure of the anterior fontanelle, Generalized joint laxity, Delayed eruption of teeth, ... |
ORPHA:2834 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Eruption failure, Kyphosis, Primary microcephaly, Micrognathia, Short nose, Failure to thrive, Se... |
ORPHA:476126 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Wide nasal bridge, Pineal cyst, Primary adrenal insufficiency... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Wide nasal bridge, Pineal cyst, Primary adrenal insufficiency... |
ORPHA:363958 |
Cockayne Syndrome A |
|
Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Prominent nose, Delayed eruption o... |
OMIM:216400 |
Menkes Disease |
|
Osteomyelitis, Recurrent fractures, Micrognathia, Prominent occiput, Tarsal synostosis, Joint hyp... |
ORPHA:565 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Immunodeficiency 47 |
|
Sensorineural hearing impairment, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Convex nasal ridge, Flexion contracture, Patellar dislocation, Wi... |
OMIM:180849 |
Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Flat acetabular roof, Macrocephaly, Trigonocephaly, Hypogonadotropic hy... |
OMIM:617159 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Kyphosis, Macrocephaly, Large for gestational age, Limitation of joint mob... |
ORPHA:457359 |
Isolated Exencephaly |
|
Hypoplasia of the frontal bone, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal calvar... |
ORPHA:563612 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Wide nasal bridge, Kyphosis, Micrognathia, Dolichocephaly, Abnormal vertebral morp... |
ORPHA:280 |
Atypical Rett Syndrome |
|
Secondary microcephaly, Scoliosis, Kyphosis |
ORPHA:3095 |
X-Linked Intellectual Disability, Snyder Type |
|
Brachycephaly, Mandibular prognathia, Recurrent fractures, Kyphosis, Camptodactyly, Testicular at... |
ORPHA:3063 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Plagiocephaly, Wide nasal bridge, Micrognathia, Epiphyseal stippling, Campto... |
ORPHA:96334 |
Coffin-Lowry Syndrome |
|
Wide nose, Dental malocclusion, Delayed closure of the anterior fontanelle, Mandibular prognathia... |
OMIM:303600 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus |
ORPHA:79085 |
Oculocerebrorenal Syndrome Of Lowe |
|
Patellar dislocation, Delayed eruption of teeth, Micrognathia, Taurodontia, Hip dislocation, Thro... |
ORPHA:534 |
Occipital Horn Syndrome |
|
Genu valgum, Convex nasal ridge, Capitate-hamate fusion, Kyphosis, Joint laxity, Platyspondyly, L... |
OMIM:304150 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Genu varum, Kyphosis, Cachexia, Midline defect of the nose, Scoliosis, Anteverted nares, Abnormal... |
ORPHA:1969 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Prominent nasal bridge, Kyphosis |
ORPHA:261222 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Kyphosis, Micrognathia, Cessation of head growth, Short nose, F... |
OMIM:617527 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Prominent nose, Kyphosis, Increased head circumference, Pineal cyst, Relative macrocephaly, Macro... |
OMIM:300967 |
Trisomy 13 |
|
Abnormality of the fontanelles or cranial sutures, Calvarial skull defect, Scoliosis, Kyphosis |
ORPHA:3378 |
Noonan Syndrome 14 |
|
Kyphosis, Prominent nasolabial fold, Lymphopenia, Short neck, Limited elbow extension, Cubitus va... |
OMIM:619745 |
Dent Disease |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Enlargement... |
ORPHA:1652 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Wide nasal bridge, Micrognathia, Scoliosis, Microcephaly |
ORPHA:2075 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Anemia, Small for gestational age, Joint laxity, Pancytopenia, Rickets, Failure... |
OMIM:613658 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microtia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Retinal dys... |
OMIM:614643 |
Primrose Syndrome |
|
Brachycephaly, Hypothyroidism, Flexion contracture, Wide nasal bridge, Midface retrusion, General... |
OMIM:259050 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Kyphosis, Abnormal sacrum ... |
ORPHA:324737 |
Weaver Syndrome |
|
Retrognathia, Mandibular prognathia, Joint contracture of the hand, Kyphosis, Macrocephaly, Campt... |
OMIM:277590 |
Mosaic Trisomy 20 |
|
Retrognathia, Vertebral fusion, Kyphosis, Craniofacial asymmetry, Micrognathia, Fused cervical ve... |
ORPHA:1724 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus |
ORPHA:435651 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Mandibular prognathia, Kyphosis, Macrocephaly, Joint laxity, Large for gestational... |
OMIM:617011 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Enamel hypoplasia, Genu valgum, Camptodactyly of finger, Joint contracture of the... |
OMIM:309000 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Delayed eruption of teeth, Scoliosis, Microcephaly |
ORPHA:568 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Microcephaly, Kyphosis |
ORPHA:500180 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Delayed cranial suture closure, Sacral dimple, Brachycephaly, Depressed nasal ridge, Wide nasal b... |
ORPHA:2211 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus |
ORPHA:435660 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Macrotia, Low-set ears, Dystonia, Hearing impairment |
ORPHA:79255 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia |
OMIM:120200 |
Mend Syndrome |
|
Sacral dimple, Wide anterior fontanel, Kyphosis, Abnormal nasal bridge morphology, Micrognathia, ... |
ORPHA:401973 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Sacral dimple, Wide nasal bridge, Kyphosis, Micrognathia, Synostosis of ... |
ORPHA:1507 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Kyphosis, Scoliosis, Anteverted nares, Microcephaly |
OMIM:616449 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Hypothyroidism, Brachycephaly, Kyphosis, Failure to thrive |
ORPHA:349 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Arthritis, Low back pain, Limited hip movement, Limited ... |
OMIM:203500 |
Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Spondylolysis, Wide anterior fontanel, Micrognathia, ... |
OMIM:304120 |
Spondyloocular Syndrome |
|
Thin bony cortex, Decreased body weight, Osteopenia, Platyspondyly, Vertebral compression fracture |
OMIM:605822 |
Proteus Syndrome |
|
Cachexia, Hip dislocation, Abnormality of the wrist, Thymus hyperplasia, Splenomegaly, Thick nasa... |
ORPHA:744 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Kyphosis, Micrognathia, Dolichocephaly, Lymphopenia |
OMIM:619708 |
Ogden Syndrome |
|
Delayed cranial suture closure, Wide nasal bridge, Micrognathia, Prominent nasolabial fold, Large... |
OMIM:300855 |
Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Mandibular prognathia, Wide nasal bridge, Craniofa... |
OMIM:601088 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Nodular goiter, Parathyroid hyperplasia, Joint laxity, Pheochromocytoma,... |
OMIM:162300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system |
ORPHA:231736 |
Alagille Syndrome 1 |
|
Macrotia, Hypercholesterolemia, Low-set ears, Hypertriglyceridemia, Pigmentary retinopathy |
OMIM:118450 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, Prominent nose, Microcephaly, Kyphosis |
OMIM:619244 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Brachycephaly, Hypoplasia of the frontal bone, Bifid nose, Midface ret... |
OMIM:229400 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Micrognathia, Midface retrusion, Microretrognathia, Failure to thrive, S... |
OMIM:300960 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Kyphosis, Micrognathia, Camptodactyly, Microcephaly |
OMIM:619123 |
Rett Syndrome |
|
Secondary microcephaly, Cachexia, Scoliosis, Kyphosis |
OMIM:312750 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Convex nasal ridge, Precocious puberty, Wide nasal bridge, Kypho... |
OMIM:194190 |
Aspartylglucosaminuria |
|
Brachycephaly, Spondylolysis, Thickened calvaria, Neutropenia, Kyphosis, Joint laxity, Depressed ... |
OMIM:208400 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Mandibular prognathia, Kyphosis, Prominent nasal tip, Contracture of the proximal i... |
ORPHA:464738 |
Marden-Walker Syndrome |
|
Retrognathia, Camptodactyly of finger, Kyphosis, Micrognathia, Radioulnar synostosis, Failure to ... |
ORPHA:2461 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Midface retrusion, Depressed nasal bridge, Progressive microcephaly, Scoliosis, Bulbous... |
OMIM:613454 |
Lipodystrophy, Familial Partial, Type 7 |
|
Tinnitus, Hypercholesterolemia, Orthostatic hypotension, Low-set ears, Hypertriglyceridemia, Pigm... |
OMIM:606721 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Camptodactyly, Flexion contracture of finger, Scoliosis |
ORPHA:88628 |
1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Hypothyroidism, Brachycephaly, Depressed... |
ORPHA:1606 |
Hunter-Macdonald Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Joint contracture of the hand, Camptodactyly, Midf... |
OMIM:611962 |
Curry-Jones Syndrome |
|
Unicoronal synostosis, Wormian bones, Bicoronal synostosis |
OMIM:601707 |
Classic Homocystinuria |
|
Genu valgum, Recurrent fractures, Kyphosis, Scoliosis, Joint stiffness, Osteoporosis |
ORPHA:394 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, Incr... |
OMIM:300942 |
Holt-Oram Syndrome |
|
Joint stiffness, Radioulnar synostosis, Scoliosis, Kyphosis |
ORPHA:392 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Microretrognathia |
OMIM:619909 |
Autosomal Dominant Cutis Laxa |
|
Delayed cranial suture closure, Hip dislocation, Joint laxity, Wormian bones, Osteopenia, Scolios... |
ORPHA:90348 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Midface retrusion, Prominent nasal bridge, Kyphosis |
OMIM:609944 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Micrognathia, Increased circulating gonadotropin level, Short neck, Madelung defor... |
ORPHA:99413 |
Turner Syndrome |
|
Neck pterygia, Micrognathia, Increased circulating gonadotropin level, Short neck, Madelung defor... |
ORPHA:881 |
Mosaic Monosomy X |
|
Neck pterygia, Micrognathia, Increased circulating gonadotropin level, Short neck, Madelung defor... |
ORPHA:99228 |
Monosomy X |
|
Neck pterygia, Micrognathia, Increased circulating gonadotropin level, Short neck, Madelung defor... |
ORPHA:99226 |
Orofaciodigital Syndrome Iii |
|
Bulbous nose, Supernumerary tooth, Kyphosis |
OMIM:258850 |
Brachyolmia Type 3 |
|
Short neck, Scoliosis, Kyphosis, Platyspondyly |
OMIM:113500 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Kyphosis, Small for gestational age, Posterior pituitary hypop... |
ORPHA:464311 |
Somatomammotropinoma |
|
Wide nose, Broad jaw, Mandibular prognathia, Increased circulating prolactin concentration, Kypho... |
ORPHA:314769 |
Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Underdeveloped nasal alae, Camptodactyly of finger, Hypoplasia of the frontal bone, Wide nasal br... |
ORPHA:306542 |
Acromegaly |
|
Wide nose, Broad jaw, Mandibular prognathia, Kyphosis, Anterior hypopituitarism, Spinal canal ste... |
ORPHA:963 |
Poland Syndrome |
|
Kyphosis, Finger symphalangism, Vertebral segmentation defect, Spina bifida occulta, Diabetes mel... |
ORPHA:2911 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Retrognathia, Underdeveloped nasal alae, Failure to thrive in infancy, Sacral dimple, Premature t... |
ORPHA:268261 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Hypothyroidism, Decreased response to growth hormone stimulation test, Plagiocep... |
ORPHA:444077 |
Cowden Syndrome |
|
Kyphosis, Macrocephaly, Failure to thrive, Neoplasm of the thyroid gland, Follicular thyroid carc... |
ORPHA:201 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Hip subluxation, Bilateral camptodactyly, Kyphosis, Midface retrusion, Scoliosis |
OMIM:619557 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Brachycephaly, Distal arthrogryposis, Joint dislocation, Generali... |
OMIM:601776 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Abnormality of the cervical spine, Multiple joint contractures, Na... |
ORPHA:464306 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ankle clonus, Scoliosis, Kyphosis |
OMIM:211530 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Scoliosis, Multiple joint contractures, Kyphosis |
OMIM:128100 |
Steinert Myotonic Dystrophy |
|
Facial diplegia, Fatigable weakness of bulbar muscles, Hypercholesterolemia |
ORPHA:273 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Scoliosis, Kyphosis |
OMIM:181405 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure, Hyposmia, Frontal bossing, Scoliosis, Microcephaly, Obesity |
OMIM:618653 |
Yunis-Varon Syndrome |
|
Primary microcephaly, Micrognathia, Narrow nasal base, Hip dislocation, Dolichocephaly, Wide cran... |
ORPHA:3472 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Plagiocephaly, Wide nasal bridge, Large fontanelles, Depressed nasal tip, ... |
OMIM:619475 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia |
ORPHA:391665 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Retrognathia, Knee flexion contracture, Genu valgum, Hip contracture, Wide nasal bridge, Kyphosis... |
OMIM:619194 |
Ramon Syndrome |
|
Decreased body weight, Kyphosis, Juvenile rheumatoid arthritis, Delayed eruption of teeth, Scoliosis |
OMIM:266270 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis |
OMIM:617143 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Scoliosis, Kyphosis |
ORPHA:88644 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... |
ORPHA:91495 |
Shprintzen Omphalocele Syndrome |
|
Decreased body weight, Wide nasal bridge, Kyphosis, Short columella, Scoliosis, Flared nostrils, ... |
OMIM:182210 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Back pain, Kyphosis, Hip osteoarthritis, Enthesitis |
OMIM:106300 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Macrotia, Thickened helices |
ORPHA:2714 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:79107 |
Williams Syndrome |
|
Hypothyroidism, Precocious puberty, Patellar dislocation, Wide nasal bridge, Micrognathia, Increa... |
ORPHA:904 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Delayed cranial suture closure, Wide anterior fontanel, Hip dislocation, Joint laxity, Microcepha... |
ORPHA:90349 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Genu varum, Anterior wedging of T11, Kyphosis, Hypoplasia of the odontoid process, Flat acetabula... |
OMIM:300106 |
Smith-Lemli-Opitz Syndrome |
|
Wide nasal bridge, Kyphosis, Micrognathia, Advanced eruption of teeth, Biparietal narrowing, Choa... |
ORPHA:818 |
Medulloblastoma |
|
Delayed cranial suture closure, Back pain, Progressive macrocephaly |
ORPHA:616 |
Yunis-Varon Syndrome |
|
Micrognathia, Hip dislocation, Absent sternal ossification, Large fontanelles, Anterior concavity... |
OMIM:216340 |
Cockayne Syndrome |
|
Enamel hypoplasia, Dental malocclusion, Convex nasal ridge, Contractures of the large joints, Del... |
ORPHA:191 |
17Q11 Microdeletion Syndrome |
|
Glomus jugular tumor, Precocious puberty, Kyphosis, Leukemia, Beaking of vertebral bodies T12-L3,... |
ORPHA:97685 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Kyphosis, Normocytic anemia, Failure to thrive, Chronic hemolytic anemia, Macro... |
OMIM:615512 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Protruding ear, Increased circ... |
OMIM:619534 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteoarthritis, Hip dislocation, Abnormality of the wrist, Limitation of joint... |
ORPHA:285 |
Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis |
ORPHA:97349 |
Kbg Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, Vertebral fusion, Vertebral arch anomaly, Thoracic kyph... |
OMIM:148050 |
Neurofibromatosis Type 1 |
|
Genu varum, Genu valgum, Precocious puberty, Recurrent fractures, Kyphosis, Macrocephaly, Pheochr... |
ORPHA:636 |
Coffin-Siris Syndrome 1 |
|
Retrognathia, Sacral dimple, Brachycephaly, Plagiocephaly, Kyphosis, Delayed eruption of teeth, J... |
OMIM:135900 |
Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Flexion contracture, Kyphosis, Progressive microcephaly, Narrow nose, Scoliosi... |
ORPHA:90324 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Cerebrocostomandibular Syndrome |
|
Micrognathia, Tracheomalacia, Kyphosis, Microcephaly |
ORPHA:1393 |
Full Nf2-Related Schwannomatosis |
|
Sensorineural hearing impairment, Bilateral vestibular schwannoma, Remnants of the hyaloid vascul... |
ORPHA:637 |
Viss Syndrome |
|
Brachycephaly, Hypothyroidism, Micrognathia, Hip dislocation, Butterfly vertebrae, Contracture of... |
OMIM:619472 |
Pierson Syndrome |
|
Retinal detachment, Retinal hemorrhage, Remnants of the hyaloid vascular system, Hypoproteinemia |
OMIM:609049 |
Sotos Syndrome |
|
Bilateral camptodactyly, Hypothyroidism, Flexion contracture, Hip contracture, Kyphosis, Increase... |
ORPHA:821 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Choanal atresia, Abnormal vertebral morphology, Frontal bossin... |
ORPHA:2273 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system |
OMIM:221900 |
Branchiooculofacial Syndrome |
|
Fusion of middle ear ossicles, Hyperlordosis, Ectopic thymus tissue, Kyphosis, Micrognathia, Elbo... |
OMIM:113620 |
Lymphedema-Distichiasis Syndrome |
|
Micrognathia, Kyphosis |
OMIM:153400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Optic disc pallor, Decreased serum iron, Exaggerated startle response |
ORPHA:438213 |
Pallister-Killian Syndrome |
|
Delayed cranial suture closure, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth... |
OMIM:601803 |
Microphthalmia, Syndromic 2 |
|
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Asymmetry of the ears,... |
OMIM:300166 |
Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Abnormal cochlea morp... |
ORPHA:649 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Exaggerated startle response, Microtia, Low-set ears, Posteriorly rotated ears |
OMIM:619522 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis |
ORPHA:171629 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Unilateral deafness, Anterior creases of earlobe, Low-se... |
OMIM:619539 |
Alström Syndrome |
|
Recurrent sinusitis, Hepatosplenomegaly, Decreased circulating T4 concentration, Splenomegaly, De... |
ORPHA:64 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Scoliosis, Kyphosis |
OMIM:619482 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system |
OMIM:157170 |