| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Short stature, Block vertebrae, Vertebral segmentation defect, Sever... |
OMIM:277300 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contr... |
OMIM:609813 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae, Disprop... |
OMIM:608681 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Dysosteosclerosis |
|
Short diaphyses, Delayed closure of the anterior fontanelle, Micrognathia, Sclerotic scapulae, Hy... |
OMIM:224300 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Vertebral segmentation defect, Hip dys... |
ORPHA:1988 |
| Tarp Syndrome |
|
Short sternum, High palate, Glossoptosis, Tongue nodules, Hypoplasia of the radius, Micrognathia,... |
OMIM:311900 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Short stature, Radioulnar synostosis, Clinodactyly o... |
ORPHA:3268 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f... |
OMIM:186500 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Short stature, Vertebral segm... |
ORPHA:2311 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a... |
OMIM:173800 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Short stature, Decreased testicular size, Hypoplasia of penis,... |
ORPHA:2234 |
| Becker Nevus Syndrome |
|
Abnormality of the scrotum, Kyphosis, Supernumerary ribs, Hypoplastic labia minora, Pectus excava... |
ORPHA:64755 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Kyphosis, Tongue nodules, Bifid uvula, Postaxial foot polydactyly, P... |
OMIM:258850 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Short stature, Thoracic hemivertebrae, Abnormal thorax morphology, Infertility, Clino... |
ORPHA:1445 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Short stature, Block vertebrae, Vertebral seg... |
OMIM:613686 |
| Tarp Syndrome |
|
Short sternum, Finger syndactyly, Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Mic... |
ORPHA:2886 |
| Marshall-Smith Syndrome |
|
Decreased body weight, Hallux valgus, Pectus excavatum, Slender finger, Glossoptosis, Short stern... |
OMIM:602535 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Butterfly vertebrae, Short neck, Posterior rib gap, Postnatal growth retardation, ... |
OMIM:611209 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short sternum, Patent foramen ovale, High palate, Ventricular septal defect, Clinodactyly of the ... |
OMIM:620113 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Absence of labia majora, Pectus excavatum, Spina bifida occulta, Arthrog... |
ORPHA:2990 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Ambiguous genitalia, Short stature, Bifid scrotum, Small for gestational age, Micr... |
OMIM:257300 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... |
OMIM:156530 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Irregular capital femoral epiphys... |
OMIM:609052 |
| Scarf Syndrome |
|
Short sternum, Perineal hypospadias, Bifid scrotum, Craniosynostosis, Cryptorchidism, Pectus cari... |
ORPHA:3134 |
| Orofaciodigital Syndrome Type 3 |
|
Short sternum, Lobulated tongue, Thoracic kyphosis, Bifid uvula, Postaxial foot polydactyly, Pect... |
ORPHA:2752 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hypoplastic labia majora, Thickened cortex of long bones, Postaxial hand polydactyly, Postnatal g... |
OMIM:269150 |
| Momo Syndrome |
|
Short sternum, High palate, Short stature, Large for gestational age, Femoral bowing, Congenital ... |
ORPHA:2563 |
| Scarf Syndrome |
|
Short sternum, Perineal hypospadias, Bifid scrotum, Coronal craniosynostosis, Lambdoidal craniosy... |
OMIM:312830 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Enlarged thorax, Gonadoblastoma, Short 4th metacarpal, Micrognathia, Pectus excava... |
ORPHA:99413 |
| Turner Syndrome |
|
Neck pterygia, Enlarged thorax, Gonadoblastoma, Short 4th metacarpal, Micrognathia, Pectus excava... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Neck pterygia, Enlarged thorax, Gonadoblastoma, Short 4th metacarpal, Micrognathia, Pectus excava... |
ORPHA:99228 |
| Monosomy X |
|
Neck pterygia, Enlarged thorax, Gonadoblastoma, Short 4th metacarpal, Micrognathia, Pectus excava... |
ORPHA:99226 |
| Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Micrognathia, Elbow flexion contracture, Hypoplastic labia majora, Dislocated... |
OMIM:122470 |
| Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing... |
OMIM:271520 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... |
ORPHA:66637 |
| Turnpenny-Fry Syndrome |
|
Decreased body weight, Tapered finger, Pectus excavatum, Overlapping toe, Lumbar hyperlordosis, S... |
OMIM:618371 |
| Momo Syndrome |
|
Short sternum, Obesity, High palate |
OMIM:157980 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Short stature, Supernumerary ribs, Missing ribs, Butterfl... |
OMIM:206900 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Flat acetabular roof, Missing ribs, Limitation of joint mobil... |
ORPHA:1801 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... |
OMIM:618728 |
| Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Humeroradial synostosis, Micrognathia, Phocomelia, Abnormal forear... |
ORPHA:3404 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Donnai-Barrow Syndrome |
|
Short sternum, Intestinal malrotation, Ventricular septal defect, Bicornuate uterus |
OMIM:222448 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic hypogonadism, Superior ri... |
OMIM:307500 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Bicornuate uterus, Vertebral segmentation defect, Azoospermia, Short neck, Abnorma... |
ORPHA:2578 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... |
ORPHA:168549 |
| Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... |
OMIM:113000 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Hypoplastic labia majora, Pectus excavatum, Dislocated radial hea... |
OMIM:268310 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Lethal short-limbed short stature, Brachy... |
OMIM:187601 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Pectus excavatum, Hypospadias, ... |
ORPHA:2522 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Accelerated skeletal maturation, Disproportionate... |
ORPHA:1354 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Short stature, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, S... |
ORPHA:1394 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... |
ORPHA:2635 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Overlapping toe, Short neck, Postaxial hand polydactyly, Beaking of vertebral b... |
OMIM:213980 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short stature, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyl... |
OMIM:617405 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... |
ORPHA:174 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... |
ORPHA:93351 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Elbow dislocation, Hypoplastic cervical ... |
ORPHA:628 |
| Kbg Syndrome |
|
Vertebral fusion, Short stature, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal m... |
ORPHA:2332 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Arthrogryposis multiplex... |
OMIM:178110 |
| Three M Syndrome 1 |
|
Short 5th finger, Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Delayed sk... |
OMIM:273750 |
| Familial Congenital Mirror Movements |
|
Hypogonadotropic hypogonadism, Fused cervical vertebrae |
ORPHA:238722 |
| Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Short long bone, Camptodactyly, Scoliosis, Stillbirth, Death in adolescence,... |
OMIM:619751 |
| Kniest Dysplasia |
|
Dumbbell-shaped long bone, Short neck, Delayed patellar ossification, Enlarged joints, Disproport... |
ORPHA:485 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Short stature, Dumbbell-shaped humerus, Vertebral segmentation defect, S... |
ORPHA:1836 |
| Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Short stature, Thoracic kyphosis, Clinodactyly of the 5... |
OMIM:148050 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Cervical ribs, Pectus... |
OMIM:312870 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scol... |
ORPHA:1436 |
| 3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Short neck, Delayed skeletal maturation, Abnormal metaphysis mo... |
ORPHA:2616 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ... |
OMIM:607778 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Coffin-Siris Syndrome 1 |
|
Coxa valga, Spina bifida occulta, Dislocated radial head, Cleft palate, Aplasia/Hypoplasia of the... |
OMIM:135900 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Postaxial hand polydac... |
OMIM:146510 |
| Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Elbow dislocation, Short femur,... |
OMIM:108720 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short thorax, Short long bone, Vertebral segmentation defect |
OMIM:618845 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... |
OMIM:618395 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Brachydactyly, Scoliosis, Cryptorchidism, Arachnodactyly, Hy... |
ORPHA:377 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Short stature, Clinodactyly, Hip dislocation, Short neck, Sco... |
OMIM:615583 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Short stature, Narrow chest, Toe syndactyly, Abnormal ... |
ORPHA:474 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Short foot, Finger syndactyly, Small ... |
ORPHA:915 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Failure to thrive, Rib fusion, Scoliosis, Hemivertebrae |
OMIM:614688 |
| Poland Syndrome |
|
Spina bifida occulta, Abnormal rib morphology, Absent hand, Short ribs, Finger symphalangism, Abn... |
ORPHA:2911 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Hand polydactyly, Abnormal vertebral morphology, Failure to thrive, Rib fusion, Scoliosis, Obesit... |
ORPHA:261197 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... |
OMIM:609616 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... |
ORPHA:239 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
| Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Short lower limbs, Pect... |
OMIM:259440 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... |
OMIM:608940 |
| Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... |
ORPHA:90650 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Thoracic hypoplasia, Micrognathia, Short femur, Hypertrophic cardiomyopathy, Limb undergrowth, Cl... |
OMIM:616897 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic rid... |
OMIM:309620 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Elbow dislocation, Pectus excavatum, Short neck, Sacral ... |
ORPHA:1507 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciatic notch, Dis... |
OMIM:223800 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Hip dislocation, Metatarsus adductus, Short hallux, Abnormal sternal ossifica... |
OMIM:194190 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Bell-shaped thorax, Iliac crest serration, Metaphyseal cupping, Severe platyspondyly, Short statu... |
OMIM:613320 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening,... |
ORPHA:2790 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Growth de... |
OMIM:244600 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular vertebral endplates, Short... |
OMIM:187760 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly, Neonatal death, D... |
OMIM:614096 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplastic il... |
OMIM:313400 |
| Meier-Gorlin Syndrome 1 |
|
Coxa valga, Micrognathia, Osteochondritis dissecans, Camptodactyly, Hypoplastic labia majora, Elb... |
OMIM:224690 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... |
ORPHA:2319 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Thoracic hypoplasia, Hypoplastic pubic bone, Short long bone, Flat acetabu... |
OMIM:608728 |
| Cog1-Cdg |
|
Coxa valga, Rhizomelia, Short long bone, Vertebral segmentation defect, Flat acetabular roof, But... |
ORPHA:263508 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Rhizomelia, Narrow chest, Abnormal clavicle morphology, Short neck, Decrease... |
ORPHA:93267 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Short stature, Asymmetric radi... |
OMIM:171480 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal thorax morphology, Short hallux, Delayed skeletal maturation, Abnormal form of the verte... |
ORPHA:280 |
| Grant Syndrome |
|
Joint dislocation, Short stature, Narrow chest, Abnormality of the glenoid fossa, Abnormal pelvic... |
ORPHA:2097 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Hypoplasia of penis, Failure to thrive, Hypospadias, Short neck, Cryptor... |
ORPHA:1703 |
| Aicardi Syndrome |
|
Bifid ribs, Precocious puberty, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vert... |
OMIM:304050 |
| Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Radioulnar dislocation, Short stature, Small for gestational a... |
ORPHA:97360 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Aicardi Syndrome |
|
Bifid ribs, Precocious puberty, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, M... |
ORPHA:50 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Recurrent fractures, Hypoplasia of penis, Disproportionate short-limb short ... |
ORPHA:2772 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... |
OMIM:305620 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short stature, Death in infancy, Hypoplasia of the radius, External genital hypopla... |
OMIM:613390 |
| Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, High palate, Abnormal thorax morphology, Failure to thrive, Hepatomegal... |
OMIM:269920 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Azoospermia, Sprengel anomaly, Abnormality of the vertebral col... |
OMIM:601076 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Short stature, Clinodactyly of the 5th finger, ... |
ORPHA:2916 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Thoracic hypoplasia, Severe platyspondyly, Hypoplastic ilia, Short ribs... |
OMIM:187600 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pe... |
ORPHA:313892 |
| Prune Belly Syndrome |
|
Decreased fertility, Urogenital sinus anomaly, Congenital posterior urethral valve, Vertebral seg... |
ORPHA:2970 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Short stature, Short thumb, Limitation ... |
OMIM:151200 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Clinodactyly of the 5th fin... |
ORPHA:544488 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening, Short stature |
ORPHA:1513 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Pseudoepiphyses, Short stature, Decreased testicular size, Fused c... |
OMIM:157800 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... |
OMIM:151210 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Small for gest... |
OMIM:166210 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Bifid uvula, Hip disl... |
OMIM:615777 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ambiguous genitalia, Tapered finger, Short femoral neck, Short stature, Fused cervical vertebrae,... |
OMIM:617159 |
| 1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Hip dysplasia, Spinal canal stenosis, Hy... |
ORPHA:1606 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... |
ORPHA:93324 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Narrow pelvis bone, Delayed skeletal maturation, Limited elbow extension, Pse... |
OMIM:210720 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Hip dysplasia, Mild postnatal growth retardation, Sc... |
ORPHA:530983 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Cantu Syndrome |
|
Broad first metatarsal, Congenital hypertrophy of left ventricle, Coxa valga, Hypoplastic ischiop... |
OMIM:239850 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Disproportion... |
OMIM:272460 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
| Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Tracheomalacia, Elbow dislocation, Spina bifida occulta, Pectu... |
OMIM:150250 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregularity, Shor... |
OMIM:250420 |
| Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Short humerus, Aphalangy of the hands, Spina bifida oc... |
OMIM:218600 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... |
OMIM:228520 |
| Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Lumbar scoliosis, Asymmetric short stature |
OMIM:108450 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Abnormality of the scrotum, Short 5th finger, Bifid scrotum, Small for gestational a... |
ORPHA:397590 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... |
ORPHA:392 |
| Zttk Syndrome |
|
Flexion contracture, Small hand, Kyphosis, Short stature, Joint hypermobility, Cervical ribs, Fai... |
OMIM:617140 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Kyphosis, Short stature, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasi... |
ORPHA:3082 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Short stature, Clinodactyly of the 5th finger, Hypoplasia of penis, Limitation of ... |
ORPHA:3068 |
| Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Short stature, Narrow chest, Abnormal metaphys... |
ORPHA:436 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Delayed skeletal maturation, Brachydactyly, Abnormal rib morphology, Abnorm... |
ORPHA:2643 |
| Renpenning Syndrome |
|
Decreased testicular size, Cachexia, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal t... |
ORPHA:3242 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Angulated humerus, Short long bone, Small for gestational age, Multiple rib ... |
OMIM:616229 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect, Hypert... |
OMIM:620135 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Short stature, Metaphy... |
OMIM:300863 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Generalized joint laxity, Hallux valgus, Facet joint arthrosis, Hip disloca... |
OMIM:618000 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Weight loss, Cardiomyopathy |
ORPHA:85447 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Short stature, Acetabular dysplasia, Short neck, Ce... |
OMIM:616549 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... |
OMIM:184400 |
| Three M Syndrome 2 |
|
Hyperlordosis, Short thorax, Short 5th finger, Short stature, Small for gestational age, Slender ... |
OMIM:612921 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic... |
OMIM:614524 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Hal... |
OMIM:135100 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Short stature, Slender long bone, Limitation of jo... |
ORPHA:1486 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Joint dislocation, Short thorax, Coxa valga, Kyphosis, Bowing of the ... |
ORPHA:582 |
| Mulibrey Nanism |
|
Pericardial constriction, Hypoplastic frontal sinuses, Short stature, Myocardial fibrosis, Thicke... |
OMIM:253250 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Broad ribs, Fused cervical vertebrae, Osteolysis, Osteopenia, Joint swelling, Flar... |
OMIM:612852 |
| Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Disproportionate short stature, Sev... |
ORPHA:93298 |
| Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Polydactyly, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Sho... |
OMIM:109400 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Synostosis of carpal bones... |
ORPHA:90652 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Intrauterine growth retardation, Abnormal pelvic gird... |
ORPHA:1506 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Short stature, Small for gestational age, Hip dysplasi... |
OMIM:610443 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Split hand, Abnormality of the urethra, Brachydactyly, Abnormal... |
ORPHA:2145 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Weight loss, Arthropathy, Stiff interphalangeal joints, Arthritis, Infertility, Erectile dysfunct... |
ORPHA:465508 |
| Hemochromatosis, Type 1 |
|
Impotence, Arthropathy, Azoospermia, Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Short neck, Disproportionate short-trunk short stature, Beaded ribs,... |
OMIM:200600 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Short neck, Ovoid... |
OMIM:253000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Micrognathia, Elbow flexion contracture, H... |
OMIM:245600 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Short stature |
ORPHA:195 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Elb... |
ORPHA:1826 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Small for gestational age, Bilateral cryptorchidism, Overweight, Cryptorchidism... |
OMIM:617796 |
| Caudal Regression Syndrome |
|
Ambiguous genitalia, Missing ribs, Hypoplastic vertebral bodies, Abnormal pelvic girdle bone morp... |
ORPHA:3027 |
| Pallister-Hall Syndrome |
|
Ambiguous genitalia, Precocious puberty, Short 4th metacarpal, Toe syndactyly, Hydrometrocolpos, ... |
ORPHA:672 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Ventricular septal defect, Narrow palate, Short long bone, High palate, Micro... |
OMIM:617022 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Delayed closure of the anterior fontanelle, Epiphyseal str... |
OMIM:604922 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Nar... |
ORPHA:95699 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Co... |
ORPHA:2484 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Decreased body weight, Short 1st metacarpal, Short stature, Hypoplasia of the radiu... |
OMIM:609053 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature, Joint hypermobilit... |
OMIM:615220 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Short stature, Vertebral segmentation defect, Hip dislocation, Pectus... |
ORPHA:96169 |
| Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Pec... |
OMIM:252500 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Thin clavicles, Short foot, Calvarial osteosclerosis,... |
OMIM:244460 |
| Meier-Gorlin Syndrome 3 |
|
Micrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Short thorax, Birth... |
OMIM:613803 |
| Acro-Renal-Mandibular Syndrome |
|
Hip dislocation, Butterfly vertebrae, Short neck, Uterus didelphys, Rudimentary to absent tibiae,... |
ORPHA:958 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Short thumb, Pterygium, Butterfly vertebrae, Radiou... |
ORPHA:2876 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Ambiguous genitalia, Abnormal clavicle morphology, Hypospadias |
ORPHA:276422 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Scoliosis, Sandal gap, Brachydactyly, Abnormal rib morphology, Hemivertebrae, O... |
ORPHA:2180 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Camptodactyly, Overlapping toe, Short neck, Radial deviation of finger, Hypop... |
OMIM:139210 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Micrognathia, Hip dislocation, Metat... |
OMIM:114290 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Clinodactyly... |
ORPHA:1724 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Thoracic hypoplasia, Short 4th metacarpal, Camptodactyly, Broad hallux, Ovoid ve... |
OMIM:618019 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... |
OMIM:259420 |
| Congenital Myopathy 8 |
|
Cardiomegaly, High palate, Scoliosis |
OMIM:618654 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Short stature, Joint hypermobility, Pectu... |
OMIM:130720 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Recurrent fractures, Kyphosis, Short stature, Scoliosis, Joint hyperflexibil... |
ORPHA:2050 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Craniosynostosis, Colitis |
ORPHA:88643 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Joint hypermo... |
OMIM:602196 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Death in infancy, Hepatomegaly, Cardiomegaly, Death in childhood |
OMIM:619064 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short stature, Short ribs, Narrow chest,... |
ORPHA:2021 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Hypoplastic iliac wing, Short tubular bones of the hand, Short ribs, Short long ... |
OMIM:200610 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Short stature, Missing ribs, Joint hyperflexibility, Scoliosis, Proximal... |
ORPHA:1488 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Shawl scrotum, Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shou... |
OMIM:227330 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Asymmetric septal hypertrophy, Hepatomegaly, Cardi... |
OMIM:252920 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Delayed skeletal maturat... |
ORPHA:2475 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Absent thumb, Arachnodactyly, Slender long bone, Metopic synostosis, J... |
ORPHA:500150 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Hepatomegaly |
ORPHA:858 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... |
OMIM:184460 |
| Cartilage-Hair Hypoplasia |
|
Abnormal distal phalanx morphology of finger, Short neck, Delayed skeletal maturation, Metaphysea... |
ORPHA:175 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Cleidocranial Dysplasia |
|
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Genu va... |
ORPHA:1452 |
| Cantú Syndrome |
|
Coxa valga, Finger syndactyly, Abnormal metaphysis morphology, Cuboid-shaped vertebral bodies, Hy... |
ORPHA:1517 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Decreased body weigh... |
OMIM:271640 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, 11 pairs of ribs, Delayed closure of the anterior fontanelle, Bifid ribs... |
OMIM:607872 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Coxa valga, Short stature, Absent/hypoplastic paranasal sin... |
OMIM:230000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Hip dislocation, Cervica... |
OMIM:274000 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Hip dislocation, Pectus excavatum, Overlapping toe, Broad h... |
ORPHA:508498 |
| Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Clinodactyly of the 5th finger, Joint hyperflexibility, Arachnodactyly, Abnormal ri... |
ORPHA:2759 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Humeroradial synostosis, Elbow flexion contracture, Spina bifida ... |
OMIM:151050 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short ribs, Short l... |
OMIM:225500 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occu... |
OMIM:619227 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Small for gestational age, Hypertrophic cardiomyopathy, Failure to thrive, ... |
OMIM:614702 |
| Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Rhizomelia,... |
OMIM:613848 |
| Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
| Myhre Syndrome |
|
Precocious puberty, Hypogonadism, Large iliac wing, External genital hypoplasia, Epispadias, Brac... |
ORPHA:2588 |
| Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vertebral fusion, Radial club hand, Preaxial hand polydactyly, Finger syndac... |
ORPHA:959 |
| Alagille Syndrome |
|
Butterfly vertebral arch, Vertebral segmentation defect, Clinodactyly of the 5th finger, Hypoplas... |
ORPHA:52 |
| Apert Syndrome |
|
Delayed cranial suture closure, Humeroradial synostosis, Postaxial hand polydactyly, Lambdoidal c... |
OMIM:101200 |
| X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
| Trisomy 13 |
|
Kyphosis, Narrow chest, Displacement of the urethral meatus, Abnormal pelvic girdle bone morpholo... |
ORPHA:3378 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Precocious puberty, Abnormal vertebral morphology |
ORPHA:280195 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Accelerated skeletal maturation, Sco... |
OMIM:617190 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Lower limb undergrowth, Abnormal rib morphology, Abnormality of fibula morphology,... |
ORPHA:3035 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Vertebral segmentation defect, Missing ribs, Abnormal pel... |
ORPHA:1834 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Ambiguous genitalia, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Abs... |
OMIM:613091 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Kyphoscoliosis, Macroorchidism |
OMIM:300886 |
| Cardiac Diverticulum |
|
Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe... |
ORPHA:1686 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Kyphosis, Femoral retroversion, Short metacarpal, Radial bowing, Tibial bowi... |
OMIM:610915 |
| Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... |
OMIM:203500 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly |
OMIM:613576 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Hallux valgus, Elbow flexion contracture, Camptodactyly, Hepatosplenomeg... |
OMIM:602782 |
| Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Decreased body weight, Coxa valga, Increased bone m... |
ORPHA:800 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Thin metatarsal cortices, Slender long bone, Eunuchoid habitus, Pectus excavatum, Th... |
ORPHA:2463 |
| Vacterl/Vater Association |
|
Ambiguous genitalia, Preaxial hand polydactyly, Finger syndactyly, Bifid scrotum, Vertebral segme... |
ORPHA:887 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Finger joint hypermobility, Short stature, Pericardial effusion, Bicus... |
ORPHA:363705 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Short stature, Narrow chest, Vertebral segmentation de... |
ORPHA:96061 |
| Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Elbow flexion contracture, Hip dislocation, Butterf... |
OMIM:200980 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Hypoplasia ... |
OMIM:607323 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Hypoplastic labia majora, Elbow dislocation, Delayed skeletal maturation... |
ORPHA:2554 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Syndactyly, Cardiomegaly, Tetralogy of Fallot, C... |
OMIM:601005 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib ga... |
OMIM:117650 |
| Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Elbow... |
ORPHA:83 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal metacarpal morphology, Hand polydactyly, Abnormal morphol... |
ORPHA:2167 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Vertebral segmentation defect, Abnormal sacrum morpho... |
ORPHA:3109 |
| Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Anterior rib cupping, Short metacarpal, Radial bowing, Flat acetabular roof,... |
OMIM:211350 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Neuraminidase Deficiency |
|
Short stature, Epiphyseal stippling, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
| Coffin-Lowry Syndrome |
|
Delayed closure of the anterior fontanelle, Tapered finger, Decreased body weight, Kyphosis, Coxa... |
OMIM:303600 |
| Noonan Syndrome 1 |
|
Micrognathia, Hypertrophic cardiomyopathy, Radial deviation of finger, Cleft palate, Postnatal gr... |
OMIM:163950 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ... |
ORPHA:666 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Fused cervical vertebrae, Overlapping toe, Failure to thrive, Contractu... |
ORPHA:83617 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
| Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Toe syndactyly, Micrognathia, Pectus excavatum, Broad... |
OMIM:304120 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Cone-shaped epiphysis, Short metacarpal, Narrow... |
ORPHA:93317 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Short toe, Vertebral fusion, Finger syndactyly, Toe syndactyly, Vertebra... |
ORPHA:373 |
| Gaucher Disease, Perinatal Lethal |
|
Decreased body weight, Thoracic hypoplasia, Micrognathia, Hepatosplenomegaly, Hepatomegaly, Intra... |
OMIM:608013 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Tapered finger, Finger syndactyly, Kyphosis, Ulnar deviation of finger, ... |
ORPHA:2215 |
| Fibrous Dysplasia Of Bone |
|
Osteolysis, Testicular neoplasm, Abnormal rib morphology, Ovarian cyst, Osteomalacia, Abnormality... |
ORPHA:249 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Fused cervical vertebrae, Camptodactyly, Elbow contracture, Pe... |
OMIM:617137 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Pterygium, Ventricular septal hypertrophy, Hypertrophic c... |
OMIM:618052 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicornuate uterus, Posterior rib fusion, Butterfly vertebrae, Hypospadias, Neonatal death |
OMIM:265380 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Vertebral segmentation defect, Abnormal thumb mor... |
ORPHA:1120 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Ambiguous genitalia, Finger syndactyly, Bifid scrotum, Toe syndactyly, Hypoplastic labia majora, ... |
ORPHA:1300 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Duodenal atresia, Right... |
OMIM:306955 |
| Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Failure to thrive, Hepatomegaly, Cardiom... |
OMIM:212140 |
| Sandhoff Disease |
|
Impotence, Macroglossia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Death in childhood |
OMIM:268800 |
| Thakker-Donnai Syndrome |
|
Short neck, Intrauterine growth retardation, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 ... |
ORPHA:1780 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Wide pubic symphysis, Abnor... |
OMIM:219000 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Short digit, Clinodactyly of the 5th finger, Macroglossia, Scoliosis, Hepat... |
OMIM:618143 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Small for gestational age, Abnormal tri... |
ORPHA:555874 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, Cryptorchidism, Ap... |
ORPHA:1647 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Cryptorchidism, Abnormal rib... |
ORPHA:2519 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Trisomy 1Q |
|
Camptodactyly of finger, Ambiguous genitalia, Preaxial hand polydactyly, Short thorax, Toe syndac... |
ORPHA:261344 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Scoliosis |
ORPHA:3137 |
| Vater/Vacterl Association |
|
Abnormal rib morphology, Postnatal growth retardation, Ventricular septal defect, Esophageal atre... |
OMIM:192350 |
| Chops Syndrome |
|
Short stature, Brachydactyly, Cryptorchidism, Tracheomalacia, Obesity, Cervical C2/C3 vertebral f... |
OMIM:616368 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Camptodactyly of finger, Finger swelling, Hallux valgus, Short stature, E... |
OMIM:256040 |
| Hurler Syndrome |
|
Camptodactyly of finger, Abnormality of the elbow, Short stature, Narrow pelvis bone, Spinal cana... |
ORPHA:93473 |
| Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Protrusio acetabuli, Crumpled long bones, Recurrent fractures, Co... |
OMIM:610682 |
| Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Micrognathia, Hip di... |
OMIM:216340 |
| Mogs-Cdg |
|
Thoracic scoliosis, High palate, External genital hypoplasia, Left ventricular hypertrophy, Hydro... |
ORPHA:79330 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Tapered finger, Tapered toe, Narrow palate, Death in infancy, High pala... |
OMIM:608836 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
| Lethal Acantholytic Erosive Disorder |
|
2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, Clinodactyly of the 5th finge... |
ORPHA:158687 |
| Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... |
ORPHA:2769 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Vertebral segmentation defect... |
ORPHA:87 |
| Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Hypoplasia of th... |
ORPHA:233 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short toe, Tracheobronchomalacia, Tapered finger, Short thumb, Camptodactyly, Hip ... |
OMIM:613458 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Abnormal cardiac septum morphology, Short stature, Ulnar deviation of the wris... |
ORPHA:97297 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Cachexia, Hepatomegaly |
ORPHA:42 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Necrotizing enterocolitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Kyphosis, Hallux valgus, Atrial septal defect, L... |
OMIM:300967 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Failure to thrive, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Trisomy 18 |
|
Camptodactyly of finger, Short stature, Cachexia, Narrow pelvis bone, Postaxial hand polydactyly,... |
ORPHA:3380 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, High palate, Ventricular septal defect, Hip dysplasia |
OMIM:618798 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Aplasia/Hypoplasia involving the pelvis, Vaginal atresia, Cryptorchidism, Abnormal ... |
ORPHA:3301 |
| Campomelia, Cumming Type |
|
Abnormal thorax morphology, Clubbing of toes, Brachydactyly, Abnormal rib morphology, Abnormally ... |
ORPHA:1318 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Hyperlordosis, Limited knee flexion/extension, Limited elbow movement, Scapular winging, Cardiome... |
ORPHA:268 |
| Pyknoachondrogenesis |
|
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Short long bone, P... |
ORPHA:3003 |
| Refsum Disease, Classic |
|
Cardiomegaly, Short fourth metatarsal, Cardiomyopathy |
OMIM:266500 |
| Ogden Syndrome |
|
Metatarsus valgus, Delayed cranial suture closure, Micrognathia, Secundum atrial septal defect, P... |
OMIM:300855 |
| Radio-Renal Syndrome |
|
Abnormality of the elbow, Hypoplasia of the radius, Severe short stature, Short neck, Brachydacty... |
ORPHA:3015 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
| Williams Syndrome |
|
Peptic ulcer, Precocious puberty, Colonic diverticula, Functional abnormality of male internal ge... |
ORPHA:904 |
| Mucopolysaccharidosis Type 3 |
|
Genu valgum, Avascular necrosis of the capital femoral epiphysis, Abnormal mitral valve morpholog... |
ORPHA:581 |
| Monosomy 9Q22.3 |
|
Polydactyly, Kyphosis, Accelerated skeletal maturation, Large for gestational age, Pectus excavat... |
ORPHA:77301 |
| Craniorachischisis |
|
Bifid sternum, Anal atresia |
ORPHA:63260 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Abnormality of enteric nervous system m... |
ORPHA:85451 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Aspergillosis |
|
Abnormal rib morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone m... |
ORPHA:1163 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Failure to thrive, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, High palate, Ventricular septal defect, Micrognathia, Labial hypertrophy, Mac... |
ORPHA:96191 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Short stature, Micrognathia, Bifid uvula, Dilated cardiomyopathy, Dela... |
OMIM:614921 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Clubbing, Muscular ventricular septal defect, Cardiom... |
ORPHA:439 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Small hand, Short stature, Abnormal vertebral morphology, Hypospadias, Fibular h... |
ORPHA:444077 |
| Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Hip dislocation, Short neck, Postaxial hand polydactyly,... |
ORPHA:818 |
| Charge Syndrome |
|
Short stature, Abnormal rib morphology, Bifid scrotum, Labial hypoplasia, Clinodactyly of the 5th... |
ORPHA:138 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Intrauterine growth retardation |
OMIM:618838 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad femoral neck, Small hand, Spina bifida occulta, Thickened cortex of long bones, Short neck,... |
ORPHA:488434 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Pectus excavatum, Failure to thrive, Hepatomegaly, C... |
OMIM:618278 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Patellar dislocation, Kyphosis, Recurrent fractures, Osteomalacia, Arthritis, Short ... |
ORPHA:534 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Death in infancy |
OMIM:618886 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Finger syndactyly, Abnormal preputium morphology, Short stature, Abnorma... |
ORPHA:2907 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Hip subluxation, Ge... |
OMIM:182250 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormal sternum morphology, Bicuspid aortic valve, Scoliosis, Arachnodactyly, Cardiomegaly, High... |
ORPHA:91387 |
| Complete Atrioventricular Septal Defect |
|
Failure to thrive, Primum atrial septal defect, Displacement of the papillary muscles, Complete a... |
ORPHA:1329 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Intrauterine growth retardation |
ORPHA:255249 |
| Sickle Cell Disease |
|
Priapism, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:603903 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Townes-Brocks Syndrome |
|
Toe syndactyly, Absent toe, Abnormal rib morphology, Abnormal vagina morphology, Hypoplasia of pe... |
ORPHA:857 |
| Elsahy-Waters Syndrome |
|
Cutaneous finger syndactyly, Bifid scrotum, Bilateral cryptorchidism, Pectus excavatum, Shortenin... |
OMIM:211380 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Macroglossia, Hypertrophic cardiomyopathy, Failure to thrive, Hepat... |
ORPHA:308552 |
| Pagod Syndrome |
|
Ambiguous genitalia, Abnormal testis morphology, Short stature, Agonadism, Abnormality of the ute... |
ORPHA:991 |
| Monosomy 9P |
|
Ambiguous genitalia, Abnormality of the tarsal bones, Limitation of joint mobility, Postaxial han... |
ORPHA:261112 |
| Dextrocardia |
|
Abnormal rib morphology, Congenital hip dislocation, Abnormal reproductive system morphology |
ORPHA:1666 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Narrow chest, Growth delay, Reduced bone mineral d... |
ORPHA:667 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hyperlordosis, Left ventricular hypertrophy, Macroglossia, Hypertrophic cardiomyopathy, Failure t... |
ORPHA:365 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Esophageal atresia, Single ventricle, Atrial septal defect, Tracheoeso... |
ORPHA:95430 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Abetalipoproteinemia |
|
Fat malabsorption, Steatorrhea, Failure to thrive, Kyphoscoliosis, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
| Charge Syndrome |
|
Hand monodactyly, Short thumb, External genital hypoplasia, Absent tibia, Labial hypoplasia, Hand... |
OMIM:214800 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stippled calcification of the shoulder, Osteomalacia, Fused cervical ver... |
ORPHA:51608 |
| Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Flexion contracture, Short 4th metacarpal, Finger syndactyly, Short 5th ... |
ORPHA:2908 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, High, narrow palate, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Aicardi-Goutières Syndrome |
|
Short stature, Arthritis, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Scoliosis, Cardiomegal... |
ORPHA:51 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Macroglossia, Hypertrophic cardiomyopathy, Biventricular h... |
OMIM:261740 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Failure to thrive, Polycystic ovaries, Hepatomegaly, Cardiomegaly, Cle... |
ORPHA:137675 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Alagille Syndrome 1 |
|
Butterfly vertebral arch, Hypoplasia of the ulna, Failure to thrive, Abnormal rib morphology, Sho... |
OMIM:118450 |
| Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Pancreatic hyperplasia, Enlarged kidney, Macroglossia, Prominent metopic ridge, H... |
OMIM:130650 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Dilatation of the ventricular cavity, Ventricu... |
OMIM:619991 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Short stature |
OMIM:208000 |
| Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Large intestinal polyposis, Enlarged kidney, Large for gestational age, Macroglos... |
ORPHA:116 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Macroglossia |
OMIM:232300 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Craniofacial Microsomia |
|
Genu valgum, Vertebral hypoplasia, Block vertebrae, Cervical ribs, Partial duplication of thumb p... |
OMIM:164210 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Cachexia,... |
ORPHA:75565 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Adermatoglyphia |
|
Clubbing |
OMIM:136000 |
| Basan Syndrome |
|
Flexion contracture of digit, Tapered finger, Cutaneous syndactyly of toes |
OMIM:129200 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Camptodactyly of finger |
ORPHA:1658 |
| Huriez Syndrome |
|
Tapered finger |
OMIM:181600 |
| Huriez Syndrome |
|
|
ORPHA:384 |
