| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
| Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
| Toes, Space Between First And Second |
|
Sandal gap |
OMIM:189230 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Polydactyly, Absent tibia |
OMIM:188740 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... |
ORPHA:93403 |
| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Brachydactyly, Type A4 |
|
Talipes calcaneovalgus, Short middle phalanx of the 2nd finger, Type A brachydactyly, Congenital ... |
OMIM:112800 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... |
OMIM:174500 |
| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb |
OMIM:174200 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
| Polydactyly, Postaxial, Type A6 |
|
Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... |
OMIM:135750 |
| Syndactyly Type 4 |
|
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... |
ORPHA:93405 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Syndactyly, Type Iv |
|
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... |
OMIM:186200 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Partial albinism, Red hair |
OMIM:203290 |
| Craniofacial Conodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus |
ORPHA:85168 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:214450 |
| Synpolydactyly 1 |
|
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... |
OMIM:186000 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:126070 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux |
OMIM:234280 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Brachydactyly, Type A1, D |
|
Short proximal phalanx of finger, Short proximal phalanx of thumb, Short distal phalanx of the 2n... |
OMIM:616849 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur |
OMIM:228250 |
| Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
| Hallux Varus-Preaxial Polysyndactyly Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap |
ORPHA:2110 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... |
OMIM:174700 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... |
OMIM:200700 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Dyschromatosis Universalis Hereditaria |
|
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... |
ORPHA:241 |
| Blount Disease, Infantile |
|
Abnormality of the proximal tibial epiphysis, Genu varum |
OMIM:188700 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger |
OMIM:186100 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615938 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... |
OMIM:119100 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Scoliosis, Accelerated skeletal maturation, Short metatarsal, Ulnar deviation of the hand, Acetab... |
ORPHA:93307 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Isolated Congenital Onychodysplasia |
|
Hip dysplasia, Partial duplication of the distal phalanx of the 2nd finger, Onychogryposis of fin... |
ORPHA:79144 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... |
ORPHA:1891 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Dandy-Walker malformation |
ORPHA:1566 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... |
ORPHA:1986 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Banki Syndrome |
|
Clinodactyly, Radial deviation of finger |
OMIM:109300 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... |
OMIM:617294 |
| Tibial Torsion, Bilateral Medial |
|
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Acromesomelic Dysplasia, Grebe Type |
|
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... |
ORPHA:2098 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Curved Nail Of Fourth Toe |
|
Congenital curved nail of fourth toe, Hyperconvex fingernails, Short distal phalanx of finger |
OMIM:219070 |
| Acrocephalopolysyndactyly Type Iv |
|
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... |
OMIM:201020 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly |
OMIM:607539 |
| Santos Syndrome |
|
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... |
OMIM:613005 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... |
OMIM:186350 |
| Leri-Weill Dyschondrosteosis |
|
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... |
OMIM:127300 |
| Ulnar Hemimelia |
|
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... |
ORPHA:93320 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia |
OMIM:618266 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... |
OMIM:112910 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Limited elbow extension, Platyspondyly, Femoral bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... |
OMIM:201250 |
| Léri-Weill Dyschondrosteosis |
|
Limited wrist movement, Abnormality of tibia morphology, Elbow dislocation, Dorsal subluxation of... |
ORPHA:240 |
| Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Choroid plexus cyst, Gray matter heterotopia, Polydactyly, Hypoplasia of the corp... |
OMIM:603671 |
| Atelosteogenesis, Type Iii |
|
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Elbow dislocati... |
OMIM:108721 |
| Otopalatodigital Syndrome, Type Ii |
|
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... |
OMIM:304120 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
OMIM:606952 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... |
OMIM:246570 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... |
OMIM:185750 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity |
OMIM:613073 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation |
OMIM:300700 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hip subluxation, Narrow mouth, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dys... |
OMIM:268305 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Micrognathia, Short sternum, Premature sternal synostosis |
OMIM:184800 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... |
ORPHA:85169 |
| Multiple Synostoses Syndrome 1 |
|
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... |
OMIM:186500 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal |
OMIM:313350 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... |
ORPHA:2779 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... |
ORPHA:3344 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly |
OMIM:615984 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... |
OMIM:119800 |
| Lissencephaly 5 |
|
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Occipital encephalocele, ... |
OMIM:615191 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... |
OMIM:606835 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... |
OMIM:607778 |
| Mental Retardation, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Pachygyria, Drooling, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Congenital fibros... |
OMIM:610031 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... |
OMIM:112700 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis, Carious teeth, Hip dysplasia, Metaphyseal chondrodysplasia, Disproporti... |
ORPHA:2501 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... |
ORPHA:3246 |
| Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Highly arched eyebrow, Cryptorchidism, Epiphys... |
OMIM:619135 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... |
OMIM:615072 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hypoplasia of the brainstem, Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral wh... |
ORPHA:352682 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... |
OMIM:610713 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... |
ORPHA:93396 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, ... |
OMIM:615937 |
| Atelosteogenesis, Type I |
|
Cryptorchidism, Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant... |
OMIM:108720 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Cryptorchidism, Open mouth, Micrognathia, Ptosis, Telecanthus, Knee flexion contracture, Simplifi... |
OMIM:616681 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... |
OMIM:601560 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Scoliosis, Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomeli... |
ORPHA:166016 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... |
OMIM:182255 |
| Laurin-Sandrow Syndrome |
|
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... |
ORPHA:2378 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Short nec... |
ORPHA:1427 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux |
OMIM:113200 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Rocker bottom foot, Long philtrum, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum... |
OMIM:619072 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... |
ORPHA:93406 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... |
ORPHA:998 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... |
OMIM:608940 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplas... |
OMIM:604213 |
| Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... |
ORPHA:1856 |
| Metaphyseal Acroscyphodysplasia |
|
Scoliosis, Accelerated skeletal maturation, Irregular phalanges, Craniosynostosis, Short phalanx ... |
OMIM:250215 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia,... |
ORPHA:294975 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... |
OMIM:145250 |
| Fibular Hemimelia |
|
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... |
ORPHA:93323 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Cutaneous syndactyly |
OMIM:616890 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Bowing of the long bones, Intestinal malrotation, Tibial bowing, Intrauterine grow... |
ORPHA:3035 |
| Disorganization, Mouse, Homolog Of |
|
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation |
OMIM:223200 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Type II diabetes... |
OMIM:210720 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... |
OMIM:118651 |
| Multiple Osteochondromas |
|
Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the meta... |
ORPHA:321 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, Synophrys, ... |
ORPHA:3268 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Split hand, Encephalocele, Aplasia/Hypoplasia of the r... |
ORPHA:2117 |
| Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism, Gray matter heterotopia, Micrognathia, Hypoplasia of the corpus callosum, 2-3 toe... |
OMIM:617201 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... |
OMIM:607004 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis, Abnormality of epiphysis morphology, Anal atresia, Lower limb undergrow... |
ORPHA:2310 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Mesomelic arm shortening, Long philtrum, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislo... |
OMIM:171480 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ... |
OMIM:227270 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... |
OMIM:112500 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, Sparse hair, 11 pairs of ribs, Short metacarpal, Broad phalanx, Broad me... |
OMIM:618724 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Orbital encephalocele, Congenital hip dislocation, Gray matter heterotopia, Hypop... |
OMIM:164180 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... |
OMIM:249700 |
| Shox-Related Short Stature |
|
Scoliosis, Genu valgum, Cubitus valgus, Micrognathia, Ulnar radial head dislocation, Madelung def... |
ORPHA:314795 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Short metatarsal, Joint laxity, Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epip... |
OMIM:602875 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... |
OMIM:218530 |
| Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Widely-spaced maxillary central i... |
OMIM:136760 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Genu valgum, Fibular bowing, Generalized bone demineralization, Metaphyseal ir... |
OMIM:600785 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... |
OMIM:113000 |
| Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortical band hetero... |
OMIM:600348 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb |
OMIM:176305 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Dental crowding, Hypoplasia of the corpus callosum, Pes planus, Upslanted palpebral fissure, Smoo... |
OMIM:612948 |
| Lissencephaly 3 |
|
Hypoplasia of the brainstem, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callos... |
OMIM:611603 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared ... |
OMIM:609945 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Postaxial hand polydactyly, Anterior hypopituitarism, Short ribs, Microgl... |
OMIM:241800 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia... |
OMIM:618174 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... |
ORPHA:3332 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... |
ORPHA:40 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ... |
OMIM:601376 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Metaphyseal sclerosis, Micrognathia, Cerebellar hypoplasia, Small hand, Short foot, Microcephaly,... |
OMIM:616051 |
| Wahab Syndrome |
|
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... |
OMIM:615170 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Hypertension And Brachydactyly Syndrome |
|
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... |
OMIM:618167 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Anterior tibial bowing, Fibular b... |
OMIM:112350 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Broad thumb, Absent fingernail, Fingernail dysplasia, Short distal phala... |
ORPHA:1471 |
| Craniorhiny |
|
Craniosynostosis, Oxycephaly, Hirsutism, Turricephaly, Anteverted nares, Wide nose |
OMIM:123050 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Type II lissencephaly, Congenital fibrosis of extraocular muscles, M... |
ORPHA:300570 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... |
ORPHA:1972 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... |
ORPHA:93397 |
| Duane Retraction Syndrome |
|
Aniridia, Narrow internal auditory canal, Optic disc hypoplasia, Camptodactyly, Iris coloboma, Ab... |
ORPHA:233 |
| Microphthalmia With Limb Anomalies |
|
Postnatal growth retardation, Sandal gap, High palate, Depressed nasal bridge, Postaxial hand pol... |
OMIM:206920 |
| Duane-Radial Ray Syndrome |
|
Scoliosis, Crossed fused renal ectopia, Choanal stenosis, Optic disc hypoplasia, Pes planus, Choa... |
OMIM:607323 |
| Metaphyseal Anadysplasia |
|
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... |
ORPHA:1040 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... |
ORPHA:750 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly |
OMIM:617119 |
| Sub-Cortical Nodular Heterotopia |
|
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... |
ORPHA:101029 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Highly arched eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia... |
OMIM:608716 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Frontal encephaloce... |
ORPHA:1528 |
| Acrofacial Dysostosis 1, Nager Type |
|
Scoliosis, Atresia of the external auditory canal, Patent ductus arteriosus, Bicornuate uterus, A... |
OMIM:154400 |
| Masa Syndrome |
|
Camptodactyly of finger, Ventriculomegaly, Hand clenching, Clinodactyly of the 5th finger, Agenes... |
ORPHA:2466 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Lissencephaly 1 |
|
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphol... |
OMIM:607432 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Micrognathia, Hyperconvex nail, Short distal ... |
OMIM:311895 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Short stature, T... |
ORPHA:1436 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Cerebellar cortical atrophy |
ORPHA:171622 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... |
ORPHA:300573 |
| Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Tooth malposition, Abnormal hair morphology, Abnormality of the pinna, M... |
OMIM:277150 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Femoral bowing, Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome, ... |
OMIM:307800 |
| Metaphyseal Dysplasia, Spahr Type |
|
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Disproportionate short stature,... |
OMIM:250400 |
| Brachydactyly Type A1 |
|
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... |
ORPHA:93388 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... |
OMIM:618677 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... |
OMIM:113310 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Mandibular... |
OMIM:223800 |
| Corpus Callosum, Agenesis Of |
|
Microcephaly, Camptodactyly, Agenesis of corpus callosum, Joint contracture of the hand |
OMIM:217990 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Tarsal synostosis, Flared iliac wing, Elbow dislocation, Hypoplastic frontal sinuses, ... |
ORPHA:90652 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... |
OMIM:611263 |
| Hydrocephalus With Associated Malformations |
|
Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia, Short lower ... |
OMIM:236640 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Long philtrum, Everted lower lip vermilion, Hirsutism, Hypoplasia of the ulna, Synophrys, Thin up... |
ORPHA:357175 |
| Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Abnormality o... |
ORPHA:2768 |
| Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Choroid plexus cyst, Ventriculomegaly, Preaxial foot polydactyly, Encephalocele, ... |
ORPHA:1827 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... |
OMIM:112600 |
| Mental Retardation, Autosomal Recessive 35 |
|
Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Hirsutism, Hypoplasia of... |
OMIM:615162 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... |
ORPHA:2831 |
| Cleidorhizomelic Syndrome |
|
Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl... |
ORPHA:1453 |
| Carpenter Syndrome 1 |
|
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodac... |
OMIM:201000 |
| Tibial Hemimelia |
|
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... |
ORPHA:93322 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Pursed lips, Platyspondyly, Narrow mouth, Deep philtrum, Flexion contracture, Absent ossification... |
OMIM:245160 |
| Peripheral Dysostosis |
|
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
| Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
| Gombo Syndrome |
|
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Abnormality of tibia morphology, High, narrow palate, Short neck, Micrognathia, E... |
ORPHA:2879 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... |
OMIM:618730 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Mild short stature, Short... |
OMIM:156500 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Chron... |
OMIM:300554 |
| Lissencephaly 8 |
|
Talipes equinovarus, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculome... |
OMIM:617255 |
| Acheiropody |
|
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... |
OMIM:200500 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dis... |
ORPHA:90650 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Cryptorchidism, Tarsal synostosis, Broad thumb, Elbow dislocation, ... |
ORPHA:1106 |
| Femur-Fibula-Ulna Complex |
|
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... |
ORPHA:2019 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormality of the antihelix, Craniosynostosis, Tarsal synostosis, Choanal stenosis, Decreased ci... |
ORPHA:95699 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... |
ORPHA:1505 |
| Hypochondroplasia |
|
Scoliosis, Hyperlordosis, Short toe, Macrocephaly, Childhood onset short-limb short stature, Abno... |
ORPHA:429 |
| Verheij Syndrome |
|
Scoliosis, Long philtrum, Renal agenesis, Short nose, Renal hypoplasia, Growth delay, Hemivertebr... |
OMIM:615583 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... |
OMIM:259420 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Pes pla... |
OMIM:143095 |
| Gnathodiaphyseal Dysplasia |
|
Scoliosis, Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteo... |
ORPHA:53697 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... |
OMIM:617542 |
| Trisomy 13 |
|
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Hydrops fetalis, Patent ductus arteriosu... |
ORPHA:3378 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of tibia morphology, Bulbous nose, Abnormality of the metacarpal bones, Joint stiffne... |
ORPHA:2496 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Hematuria, Proteinuria, Mesomelic short stature, Madelung deformity, Aplasia/Hypop... |
ORPHA:1765 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Broad nasal tip, Polydactyly, Syndactyly, Hypoplasia of the epigl... |
OMIM:300484 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides |
OMIM:103500 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microcephaly |
OMIM:615771 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... |
OMIM:274000 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Wormian bones, Delayed eruption of teeth, Midshaft hypospadias, Abnormal... |
ORPHA:2863 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Scoliosis, Anal atresia, Abnormality of the lower limb, Duplication involving bones of the feet |
OMIM:246000 |
| Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Death in infancy, Unilateral renal agenesis, Sacral dimple, Vertebral f... |
OMIM:618845 |
| Kyphomelic Dysplasia |
|
Dumbbell-shaped humerus, Flat acetabular roof, Ulnar bowing, Micrognathia, Femoral bowing, Depres... |
OMIM:211350 |
| Acrodysostosis |
|
Open bite, Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metat... |
ORPHA:950 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Hydrocephalus, Toe syndactyly... |
ORPHA:380 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Forearm undergrowth, Absent radius, Abnormality of the ribs, Short neck, Microg... |
OMIM:251230 |
| Van Den Ende-Gupta Syndrome |
|
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palat... |
OMIM:600920 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Preaxial hand polydactyly, Cleft upper lip, Cleft palate |
OMIM:601420 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... |
OMIM:186550 |
| Septopreoptic Holoprosencephaly |
|
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... |
ORPHA:280195 |
| Split-Hand/Foot Malformation 4 |
|
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... |
OMIM:605289 |
| Marshall Syndrome |
|
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Ulnar bowing, Micrognathia, D... |
OMIM:154780 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Mesomelia, Talipes equinovalgus, Short tibia, Hip dislocation, Fibular ap... |
OMIM:605274 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Oligodactyly, Almond-shaped palpebral fissure, Downturned corners of mouth, Pes planus, Thin uppe... |
ORPHA:521308 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... |
OMIM:614039 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... |
ORPHA:363417 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... |
OMIM:604317 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... |
OMIM:271700 |
| Brachydactyly Type C |
|
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... |
ORPHA:93384 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Pectus excavatum, Short sternum, Hyperconvex nail, Supernumerary toot... |
OMIM:258850 |
| Chromosome 2Q35 Duplication Syndrome |
|
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands |
OMIM:185900 |
| Femoral-Facial Syndrome |
|
Scoliosis, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Abnormality of the ribs, Abnormality ... |
ORPHA:1988 |
| Stuve-Wiedemann Syndrome |
|
Scoliosis, Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fr... |
OMIM:601559 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... |
OMIM:176240 |
| Meckel Syndrome, Type 10 |
|
Narrow palpebral fissure, Epicanthus, Postaxial polydactyly, Anencephaly, Ptosis, Cleft palate, O... |
OMIM:614175 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Conduct... |
ORPHA:2878 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Absent toenail, Hypoplastic toenails, Toe syndactyly, Anonychia, Symphal... |
ORPHA:1113 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Pes planus, Thoracic kyphosis, Large hands, Synophrys, Long toe, Cleft lip, Cleft palate, Low pos... |
OMIM:300263 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, Increas... |
ORPHA:251028 |
| Jawad Syndrome |
|
4-5 toe syndactyly, Thoracic scoliosis, Short middle phalanx of the 5th finger, Retrognathia, Sin... |
OMIM:251255 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy |
OMIM:616192 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... |
OMIM:615411 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... |
OMIM:164900 |
| Seckel Syndrome 1 |
|
Enamel hypoplasia, Cryptorchidism, Dental crowding, Pes planus, Sandal gap, Downslanted palpebral... |
OMIM:210600 |
| Lissencephaly 4 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... |
OMIM:614019 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Bulging epiphyses, Metaphyseal irregularity, Bone pain, Bowing of the legs, Th... |
OMIM:264700 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dyspla... |
OMIM:615763 |
| Dent Disease 1 |
|
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Chron... |
OMIM:300009 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... |
ORPHA:3104 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Bulging epiphyses, Carious teeth, Metaphyseal irregularity, Bone pain, Bowing ... |
OMIM:277440 |
| Oculocerebrodental Syndrome |
|
Abnormality of thalamus morphology, Enamel hypoplasia, Oligodontia, Epicanthus, Abnormality of th... |
ORPHA:557003 |
| Orofaciodigital Syndrome Iv |
|
Porencephalic cyst, Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Cerebral atro... |
OMIM:258860 |
| X-Linked Intellectual Disability, Siderius Type |
|
Oral cleft, Preaxial hand polydactyly, Large hands, Cleft upper lip |
ORPHA:85287 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... |
OMIM:231070 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... |
OMIM:601438 |
| Mesomelic Limb Shortening And Bowing |
|
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... |
OMIM:249710 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Bone pain, Increased bone mineral density, Rickets of the lower limbs, Pseudo-f... |
ORPHA:289176 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Abnormality of the ribs, Ambiguous genitalia, Short neck, Abnormality of epiphysis... |
ORPHA:93267 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Cutaneous syndactyly, Talipes equinovarus |
OMIM:613681 |
| Osteogenesis Imperfecta, Type Viii |
|
Scoliosis, Wormian bones, Platyspondyly, Radial bowing, Joint laxity, Wide anterior fontanel, Ext... |
OMIM:610915 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Thin ... |
OMIM:241530 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly, Pes cavus, Talipes equinovarus, Adducted thumb, Microcephaly, Ag... |
OMIM:303350 |
| Campomelic Dysplasia |
|
Scoliosis, Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Micrognathia, Sh... |
ORPHA:140 |
| Distal Monosomy 10P |
|
Cryptorchidism, Short neck, Abnormality of the elbow, Non-midline cleft lip, Bilateral single tra... |
ORPHA:1580 |
| Waardenburg Syndrome, Type 4B |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... |
OMIM:613265 |
| Frontal Encephalocele |
|
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebral calcification, H... |
ORPHA:1931 |
| Brachydactyly Type B |
|
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... |
ORPHA:93383 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal... |
OMIM:218670 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... |
ORPHA:171703 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Rocker bottom foot, Thin vermilion border, Cryptorchidism, Narrow mouth, Frontal cortical atrophy... |
OMIM:618766 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Joint hypermobility, Cryptorchidism, Optic disc coloboma, Pes planus, Slender long bon... |
ORPHA:536471 |
| Kbg Syndrome |
|
Scoliosis, Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent ... |
ORPHA:2332 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Thin vermilion border, Elbow dislocation, Abnormality of epiphysis morph... |
ORPHA:2631 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Ventriculomegaly, Abnormality of the dentition, Dyspla... |
ORPHA:500166 |
| Lissencephaly 6 With Microcephaly |
|
Almond-shaped palpebral fissure, Pachygyria, Periventricular heterotopia, Hypoplasia of the corpu... |
OMIM:616212 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin |
OMIM:619165 |
| Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... |
ORPHA:255182 |
| Brachydactyly Type B2 |
|
Short toe, Finger syndactyly, Synostosis of carpal bones, Absent fingernail, Short distal phalanx... |
ORPHA:140908 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, ... |
OMIM:600081 |
| Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Broad toe, Downturned corners of mouth, Hypoplasia of the corpus callosum, Ventriculomegaly, Unus... |
ORPHA:262767 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short forearm, Mesomelic short stature, Madelung deformity, Short tibia, Ulnar bow... |
OMIM:127350 |
| Pallister W Syndrome |
|
Radial bowing, Cubitus valgus, Agenesis of central incisor, Broad nasal tip, Pes planus, Camptoda... |
OMIM:311450 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Polyhydramnios, Finger syndactyly, Hypoplasia of t... |
ORPHA:2256 |
| Omodysplasia 2 |
|
Dislocated radial head, Hypoplastic distal humeri, Long philtrum, Limited elbow flexion/extension... |
OMIM:164745 |
| Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... |
ORPHA:246 |
| Acromicric Dysplasia |
|
Long philtrum, Short phalanx of finger, Narrow mouth, Deep philtrum, Cone-shaped epiphysis, Short... |
OMIM:102370 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Primary adrenal insufficiency, Ence... |
ORPHA:1590 |
| 3M Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Abnormality of the elbo... |
ORPHA:2616 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Scoliosis, Bifid distal phalanx of toe, Thin vermilion border, Sparse eyebrow, Underdeveloped nas... |
OMIM:618419 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Mesomelia, Abnormality of the pinna, Hypoplasia of the ulna, Neonatal death, Syndactyly, Microgna... |
OMIM:228940 |
| Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... |
ORPHA:3258 |
| Rhyns Syndrome |
|
Radial bowing, Nephronophthisis, Renal insufficiency, Anterior hypopituitarism, Pituitary hypothy... |
OMIM:602152 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Wormian bones, Hydrops fetalis, Decreased fibular diameter, Multiple prenatal fra... |
OMIM:616897 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Talipes, Finger ... |
ORPHA:1908 |
| Holoprosencephaly |
|
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Aplasia/Hypoplasia of the cerebellum, Br... |
ORPHA:2162 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Scoliosis, Stippled calcification proximal humeral epiphyses, Rhizomelia, Irregular vertebral end... |
OMIM:222765 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Disproportionate short-limb sho... |
OMIM:114290 |
| Holzgreve Syndrome |
|
Hand polydactyly, Cleft upper lip, Cleft palate |
OMIM:236110 |
| Wt Limb-Blood Syndrome |
|
Irregular hyperpigmentation, Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint ... |
OMIM:194350 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Gray matter hete... |
OMIM:615287 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Joubert Syndrome 30 |
|
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... |
OMIM:617622 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair |
ORPHA:1410 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... |
ORPHA:1802 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Triphalangeal thumb, Oligodactyly, Short philtrum, Absent forearm, Overlapping toe, Narrow mouth,... |
OMIM:201170 |
| W Syndrome |
|
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... |
ORPHA:2804 |
| Joubert Syndrome With Renal Defect |
|
Highly arched eyebrow, Hand polydactyly, Hydrocephalus, Abnormality of the hypothalamus-pituitary... |
ORPHA:220497 |
| Meier-Gorlin Syndrome 7 |
|
Scoliosis, Cryptorchidism, Craniosynostosis, Joint laxity, Narrow mouth, Choanal atresia, Bowing ... |
OMIM:617063 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atroph... |
OMIM:617862 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, Short digit,... |
OMIM:613091 |
| Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad... |
ORPHA:2756 |
| Acro-Renal-Mandibular Syndrome |
|
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... |
ORPHA:958 |
| Juberg-Hayward Syndrome |
|
Scoliosis, Abnormality of the elbow, Abnormality of the metacarpal bones, Oral cleft, Short thumb... |
ORPHA:2319 |
| Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
|
Cryptorchidism, Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia... |
OMIM:612447 |
| Syndactyly, Type V |
|
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... |
OMIM:186300 |
| Charge Syndrome |
|
Scoliosis, Cryptorchidism, Coloboma, Choanal atresia, Patent ductus arteriosus, Omphalocele, Hemi... |
OMIM:214800 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Upslant... |
OMIM:618492 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Short neck, Abnormality of the vertebral column, Cervical C2/C3 vertebra... |
ORPHA:2345 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortica... |
OMIM:618709 |
| Ermine Phenotype |
|
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation |
OMIM:227010 |
| Charlie M Syndrome |
|
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Split hand, Non-midline c... |
ORPHA:1406 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip |
ORPHA:401942 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... |
ORPHA:174 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... |
ORPHA:397725 |
| Cardiospondylocarpofacial Syndrome |
|
Scoliosis, Tarsal synostosis, Joint laxity, Pseudoepiphyses, Vesicoureteral reflux, Decreased tes... |
OMIM:157800 |
| Radial Hemimelia |
|
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... |
ORPHA:93321 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:300067 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... |
OMIM:131960 |
| Eiken Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... |
ORPHA:79106 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... |
ORPHA:157801 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Disproportionate short-limb short stature, Madelung deformity, Limited pronation/s... |
DECIPHER:58 |
| Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
| Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Nasofrontal encephalocele, Abnormality of neuronal migration, Meningocel... |
ORPHA:101030 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Scoliosis, Accelerated skeletal maturation, Cryptorchidism, Epiphyseal stippling, Short metatarsa... |
OMIM:101800 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... |
ORPHA:79397 |
| Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Scapular winging, Heterochromia iridis, Blepharophimosis, Premature gray... |
OMIM:148820 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Conductive hearing impairment, R... |
OMIM:602471 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Ventriculomegaly, Brain atrophy, Small cerebral cortex, Abnormal cerebral morphology, Abnormal ne... |
ORPHA:329228 |
| Cartilage-Hair Hypoplasia |
|
Scoliosis, Accelerated skeletal maturation, Spinal dysraphism, Abnormality of the metaphysis, Sho... |
ORPHA:175 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Pear-shaped nose, Joint hypermobility, Scoliosis, Craniosynostosis, Cryptorchidism, Bulbous nose,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Pear-shaped nose, Joint hypermobility, Scoliosis, Craniosynostosis, Cryptorchidism, Bulbous nose,... |
ORPHA:363958 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Partial duplication of eyebrows, 2-3 toe syndactyly, 2-4 finger syndactyly, Long eyelashes |
OMIM:227210 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Anal atresi... |
OMIM:309620 |
| Trisomy 1Q |
|
Polyhydramnios, Cryptorchidism, Hydrops fetalis, Scrotal hypoplasia, Patent ductus arteriosus, Om... |
ORPHA:261344 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Long philtrum, Humeroradial synostosis, Rocker bottom foot, Abnormal renal morphology, Lambdoidal... |
OMIM:207410 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... |
ORPHA:988 |
| Sheldon-Hall Syndrome |
|
Overlapping fingers, Scoliosis, Tarsal synostosis, Short neck, Webbed neck, Adducted thumb, Wide ... |
ORPHA:1147 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Highly arched eyebrow, Micropenis, Preaxial polydactyly, Unilateral renal ag... |
OMIM:618142 |
| Baller-Gerold Syndrome |
|
Scoliosis, Lambdoidal craniosynostosis, Narrow mouth, Underdeveloped nasal alae, Aphalangy of the... |
OMIM:218600 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Odontochondrodysplasia 1 |
|
Scoliosis, Joint hypermobility, Nephronophthisis, Short phalanx of finger, Flared iliac wing, Dea... |
OMIM:184260 |
| Brachymesomelia-Renal Syndrome |
|
Mesomelic arm shortening, Hypoplasia of the radius, Ulnar bowing, Fibular hypoplasia, Renal insuf... |
OMIM:113470 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Cerebral white matter atrophy, Downturned corners of mouth, Postaxial polydactyly, D... |
ORPHA:435638 |
| Diastrophic Dwarfism |
|
Scoliosis, Cryptorchidism, Elbow dislocation, Increased bone mineral density, Abnormality of the ... |
ORPHA:628 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... |
OMIM:609432 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... |
ORPHA:79433 |
| Bartsocas-Papas Syndrome 1 |
|
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Ankyloble... |
OMIM:263650 |
| Craniosynostosis, Adelaide Type |
|
Shortening of all distal phalanges of the fingers, Cone-shaped epiphyses of the toes, Carpal bone... |
OMIM:600593 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Holoprosencephaly, Bilateral microphthalmos, Microphthalmia, Anophthalmia |
OMIM:611638 |
| Warburg Micro Syndrome 1 |
|
Cryptorchidism, Thin vermilion border, Narrow mouth, Overlapping toe, Enlarged sylvian cistern, M... |
OMIM:600118 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Short femur, Absent septum pellucidum, Holoprosencephaly, Foot oligodacty... |
OMIM:601357 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... |
ORPHA:93409 |
| Pallister-Hall Syndrome |
|
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Natal tooth, Choanal atresia, Hemivertebrae, M... |
OMIM:146510 |
| Fibula, Recurrent Dislocation Of Head Of |
|
Abnormality of fibula morphology |
OMIM:135800 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft palate |
ORPHA:217 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Sandal gap, Flat acet... |
OMIM:256050 |
| Frontometaphyseal Dysplasia 1 |
|
Scoliosis, Hydroureter, Hirsutism, Partial fusion of carpals, Long phalanx of finger, Wrist flexi... |
OMIM:305620 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Syndactyly, Proximal radio-ulnar synostosis, Hip dislocation, Clinod... |
OMIM:605432 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Omphalocele, Increased nuchal translucency, Long toe, Congenital diaphragmatic he... |
ORPHA:1692 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Joint hypermobility, Short philtrum, Talipes equinovarus, Cryptorchidism, Drooling, Growth delay,... |
ORPHA:3306 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... |
OMIM:311300 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus |
OMIM:600121 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... |
OMIM:615412 |
| Gordon Syndrome |
|
Scoliosis, Camptodactyly of finger, Cryptorchidism, Talipes, Finger syndactyly, Short stature, Cl... |
ORPHA:376 |
| Joubert Syndrome With Ocular Defect |
|
Highly arched eyebrow, Hand polydactyly, Hydrocephalus, Abnormality of the hypothalamus-pituitary... |
ORPHA:220493 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Macroglossia, Hypoplasia of the brainstem, Agenesis of corpus... |
ORPHA:370959 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Br... |
OMIM:617866 |
| Trisomy 18 |
|
Cryptorchidism, Choanal atresia, Omphalocele, Bilateral single transverse palmar creases, Anencep... |
ORPHA:3380 |
| Joubert Syndrome |
|
Highly arched eyebrow, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormality o... |
ORPHA:475 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Abnormal tracheobronchial morphology, Cryptorchidism, Sagittal craniosynostosis |
OMIM:218450 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, Long philtrum, Cryptorchidism, Downturned corners of mouth, Micrognathia... |
ORPHA:1707 |
| Piebald Trait |
|
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... |
OMIM:172800 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Polyhydramnios, Hypoplasia of the radius, Short femur, Short philtrum, Rhizomelia, Abnormality of... |
OMIM:607143 |
| Mental Retardation, Autosomal Dominant 22 |
|
Epicanthus, Smooth philtrum, Thin upper lip vermilion, Microcephaly, Micrognathia, Agenesis of co... |
OMIM:612337 |
| Langer Mesomelic Dysplasia |
|
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Madelung deformity, Bo... |
ORPHA:2632 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly |
ORPHA:2091 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Ventriculomegaly, Oral cleft, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| 15Q24 Microdeletion Syndrome |
|
Scoliosis, Cryptorchidism, Joint laxity, Narrow mouth, Postnatal growth retardation, Broad eyebro... |
ORPHA:94065 |
| Braddock Syndrome |
|
Scoliosis, Preaxial hand polydactyly, Pulmonary fibrosis, Micrognathia, Unilateral renal agenesis... |
ORPHA:52047 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna |
ORPHA:1118 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus |
ORPHA:141333 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Platyspondyly, Broad long bones, Recurrent fractures, Absent ossification of calva... |
OMIM:166210 |
| Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Micropenis, 2-3 toe syndactyly, Pa... |
OMIM:617516 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft upper lip, Cleft palate |
OMIM:614402 |
| Aarskog-Scott Syndrome |
|
Cryptorchidism, Pes planus, Oral cleft, Short neck, Broad foot, Hypoplasia of the maxilla, Long p... |
ORPHA:915 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Cleft pa... |
DECIPHER:46 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... |
OMIM:271640 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypo... |
OMIM:616486 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Underdeveloped nasal alae, Omphalocele, Ulnar deviation of the hand, Bicornuate u... |
OMIM:263210 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Polydactyly, Encephalocele, Cleft upper lip, Cleft palate, Talipes eq... |
OMIM:613885 |
| Blount Disease, Adolescent |
|
Bowing of the legs, Osteochondritis Dissecans, Genu varum |
OMIM:259200 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
| Waardenburg Syndrome, Type 2A |
|
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... |
OMIM:193510 |
| Keratoconus Posticus Circumscriptus |
|
Growth delay, Recurrent urinary tract infections, Cleft palate, Clinodactyly of the 5th finger, V... |
OMIM:244600 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Overlapping toe, Cerebellar hypoplasia, Periventricular nodular heterotopia, Microcephaly, Optic ... |
OMIM:618572 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Thick vermilion border, Sim... |
OMIM:617090 |
| Monosomy 5P |
|
Scoliosis, Finger syndactyly, Microretrognathia, Joint hyperflexibility, Recurrent fractures, Wid... |
ORPHA:281 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Dislocated radial head, Platyspondyly, Metaphyseal irregularity, Carpal bone hypoplasi... |
OMIM:618395 |
| Metaphyseal Acroscyphodysplasia |
|
Scoliosis, Accelerated skeletal maturation, Abnormality of femur morphology, Bowing of the long b... |
ORPHA:1240 |
| Ulnar Hypoplasia |
|
Radial bowing, Distal ulnar hypoplasia, Radial dysplasia, Mesomelic arm shortening, Hypoplasia of... |
OMIM:191440 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... |
OMIM:616716 |
| Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... |
OMIM:611702 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplas... |
OMIM:614643 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly |
OMIM:225300 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna |
OMIM:314360 |
| Orofaciodigital Syndrome Xiv |
|
Cryptorchidism, Microretrognathia, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Preax... |
OMIM:615948 |
| Nasodigitoacoustic syndrome |
|
