Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
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 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Toes, Space Between First And Second |
|
Sandal gap |
OMIM:189230 |
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 |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
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 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
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 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
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 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Craniofacial Conodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus |
ORPHA:85168 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
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 distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... |
OMIM:616849 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Hallux Varus-Preaxial Polysyndactyly Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap |
ORPHA:2110 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... |
ORPHA:241 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... |
OMIM:200700 |
Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Isolated Congenital Onychodysplasia |
|
2-3 toe syndactyly, Ingrown nail, Small nail, Toenail dysplasia, Slender distal phalanx of finger... |
ORPHA:79144 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Accelerated skeletal maturation, Arthralgia of the h... |
ORPHA:93307 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Dandy-Walker malformation |
ORPHA:1566 |
Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... |
OMIM:617294 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Gray matter heterotopia, Talipes equinovarus, Cryp... |
OMIM:603671 |
Curved Nail Of Fourth Toe |
|
Short distal phalanx of finger, Hyperconvex fingernails, Congenital curved nail of fourth toe |
OMIM:219070 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:618266 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Micro... |
OMIM:617866 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Horizontal sac... |
OMIM:108721 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... |
ORPHA:93314 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Abnormal aryepiglottic fold... |
OMIM:268305 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Pla... |
OMIM:304120 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Abnor... |
ORPHA:3344 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Short sternum |
OMIM:184800 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... |
ORPHA:2779 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... |
OMIM:246570 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... |
OMIM:615072 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... |
ORPHA:3246 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Flat capital ... |
OMIM:601560 |
Acromesomelic Dysplasia 4 |
|
Hypertrichosis, Broad phalanx, Accelerated skeletal maturation, Platyspondyly, Broad finger, Genu... |
OMIM:619636 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... |
OMIM:608940 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... |
OMIM:619135 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Biemond Syndrome Ii |
|
Hydrocephalus, Preaxial hand polydactyly |
OMIM:210350 |
Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:1856 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... |
ORPHA:1427 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... |
ORPHA:93356 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... |
OMIM:145250 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia, Cleft palate, Orbital cyst, Congenital hip disloc... |
OMIM:164180 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Pectus carinatum, Radioulnar synostosis, Abnormal ... |
ORPHA:3268 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... |
ORPHA:3035 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation |
OMIM:223200 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Adducted thumb, Micrognathia, Microcephaly, Telecanthus, Knee flexion contracture, Open mouth, Si... |
OMIM:616681 |
Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... |
ORPHA:3104 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Anal atresia, Scoliosis, Hyperlordosis, Abnormal epiphysis morph... |
ORPHA:2310 |
Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, Sparse hair, 11 pairs of ribs, Short phalanx of finger, Short m... |
OMIM:618724 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Cerebellar hypoplasia, Polymi... |
OMIM:604213 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... |
OMIM:136760 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Renal agenesis, Abnormality of... |
ORPHA:294975 |
Shox-Related Short Stature |
|
Forearm undergrowth, High palate, Tibial bowing, Short stature, Micrognathia, Short neck, Scolios... |
ORPHA:314795 |
Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... |
OMIM:218530 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... |
OMIM:210720 |
Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Hypoplasia of the radius, Micrognathia, Retrognathia, Short 5th finger, Neonatal de... |
OMIM:227270 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemiverteb... |
OMIM:113000 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... |
OMIM:108720 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Short neck, Clitoral hypoplasia, Hy... |
OMIM:609945 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short statu... |
OMIM:171480 |
Acromesomelic Dysplasia 1 |
|
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... |
OMIM:602875 |
Jawad Syndrome |
|
Thoracic scoliosis, Postaxial polydactyly, Retrognathia, Anonychia, Single interphalangeal crease... |
OMIM:251255 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o... |
OMIM:168400 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow... |
OMIM:112350 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Fingernail dysplas... |
ORPHA:1471 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... |
OMIM:607323 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... |
OMIM:610031 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Short neck... |
ORPHA:93315 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Cerebellar cortical atrophy |
ORPHA:171622 |
Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... |
OMIM:600348 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Anal atresia, Type II diabetes mellitus, Short stature, Abnormal sacrum morphology, Brachydactyly... |
ORPHA:1436 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran... |
ORPHA:1972 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
High palate, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Downslanted ... |
ORPHA:300570 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Neonatal ... |
OMIM:601376 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal... |
OMIM:307800 |
Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... |
OMIM:250400 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
Kniest Dysplasia |
|
Enlarged joints, Cleft palate, Platyspondyly, Short neck, Disproportionate short-trunk short stat... |
OMIM:156550 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Vertebral segmentation defect, Chronic kidney disease, Short stature, Unilateral renal agenesis, ... |
OMIM:617661 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hirsutism, Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, ... |
ORPHA:357175 |
Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Tooth malposition, Micrognathia, Osteolytic defects of the phalanges o... |
OMIM:277150 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split hand, Split foot |
OMIM:225290 |
Acromelic Frontonasal Dysplasia |
|
Wide mouth, Hypoplasia of the olfactory bulb, Talipes equinovarus, Aplasia/Hypoplasia of the tibi... |
ORPHA:1827 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hirsutism, Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, ... |
OMIM:615162 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
High palate, Clinodactyly of the 5th finger, Upslanted palpebral fissure, Broad eyebrow, Hypoplas... |
OMIM:612948 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... |
OMIM:223800 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Temporomandibular joint ankylosis, Ul... |
OMIM:164900 |
Lissencephaly 3 |
|
Gray matter heterotopia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria,... |
OMIM:611603 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Macrocephaly, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the dis... |
OMIM:268310 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Cleidorhizomelic Syndrome |
|
Abnormal clavicle morphology, Clinodactyly of the 5th finger, Brachydactyly, Bilateral single tra... |
ORPHA:1453 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... |
OMIM:259420 |
Charge Syndrome |
|
Webbed neck, Labial hypoplasia, Aplasia of the semicircular canal, External genital hypoplasia, H... |
OMIM:214800 |
Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:233270 |
Duane Retraction Syndrome |
|
Hypoplasia of the radius, Short neck, Microcornea, Hypoplastic iris stroma, Talipes equinovarus, ... |
ORPHA:233 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Abnormal pinna morphology, Hydrocephalus, Depressed nasal bri... |
ORPHA:90652 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... |
OMIM:618019 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the hand, Agenesis of corpus callosum, Abnormality... |
ORPHA:521308 |
Peripheral Dysostosis |
|
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Depressed nasa... |
ORPHA:536471 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Depressed nasal bridge, True anophthalmia, Abnormality of the upper limb, Optic at... |
ORPHA:1106 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... |
OMIM:300554 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Microphthalmia With Limb Anomalies |
|
High palate, Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, Hand... |
OMIM:206920 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Macrocephaly, Childhood onset ... |
ORPHA:429 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Abnormality of the a... |
OMIM:617542 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Broad jaw, Bowing of the lo... |
ORPHA:53697 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Acrodysostosis |
|
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radiu... |
ORPHA:950 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Craniosynostosis, Radioulnar synostosis, Polycystic... |
ORPHA:95699 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
High palate, Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital ... |
OMIM:245160 |
Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Abnormalit... |
ORPHA:2496 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Unilateral renal agenesis, Bilateral renal ag... |
OMIM:618845 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Duplication involving bones of the feet, Scoliosis, Abnormality of the lower limb |
OMIM:246000 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, External genital hypoplasia, Aplasia/Hypoplasia of the middle phalange... |
OMIM:201000 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Arrhinencephaly, Cerebellar hypoplasia,... |
ORPHA:1528 |
Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... |
ORPHA:2879 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,... |
OMIM:236640 |
Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Optic... |
ORPHA:363417 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral bowing, Osteopenia, Platyspondyly, Decreased calvarial ossification, Disproportionate sho... |
OMIM:610915 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Downs... |
OMIM:154400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... |
OMIM:264700 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate, Preaxial hand polydactyly |
OMIM:601420 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Hypothalamic hamartoma, Short ribs, Micrognathia, Micromelia, Anteri... |
OMIM:241800 |
Ventriculomegaly And Arthrogryposis |
|
Talipes equinovarus, Micrognathia, Cerebellar hypoplasia, Ulnar deviation of the wrist, Ventricul... |
OMIM:619501 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Sparse eyebrow, Short neck, Hypoplasia of the capital femoral epiphysis, Delayed eru... |
OMIM:143095 |
Masa Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Ventriculomegaly, Hand clenching, Agenes... |
ORPHA:2466 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... |
OMIM:614039 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Hypoplastic toenails, Split foot, Camptodactyly of finger, Anonyc... |
ORPHA:1113 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Short sternum, Supernumerary tooth, Hyperconvex nail, Postaxial hand polydactyl... |
OMIM:258850 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Cleft palate, Sh... |
OMIM:211350 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Femoral bowing, Thin bony cortex, Renal phosphate wasting, Metaphyseal irregularity, Renal tubula... |
OMIM:241530 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Spindle-shaped finger, Cerebral atrophy, Triangular mouth, Cutan... |
ORPHA:166024 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia |
OMIM:166990 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Nephropathy, Hematuria, Aplasia/Hypoplasia of the radiu... |
ORPHA:1765 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intr... |
ORPHA:1505 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Widely patent fontanelles and sutures, Delayed epiphysea... |
OMIM:600081 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Miscarriage, Absent thumb, Short stature, Hypoplasia of the radius, Small thenar em... |
OMIM:613390 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Dysplastic corpus callosum, Focal white matter lesions, Abnormality of the... |
ORPHA:557003 |
Dent Disease 1 |
|
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... |
OMIM:300009 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Agenesis of corpus callosum, Polymicrogyria, Hypoplasia of the... |
ORPHA:101029 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Heart-Hand Syndrome Type 2 |
|
Abnormal palate morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormalit... |
ORPHA:1350 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Sclerotic vertebral endplat... |
ORPHA:289176 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Telec... |
ORPHA:380 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Narrow mouth, Short metacarpal, Cone-shaped epiphysis, Long ph... |
OMIM:102370 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Large hands, Preaxial hand polydactyly, Oral cleft |
ORPHA:85287 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
Symbrachydactyly Of Hands And Feet |
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Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S... |
ORPHA:2878 |
Corpus Callosum, Agenesis Of |
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Joint contracture of the hand, Microcephaly, Agenesis of corpus callosum, Camptodactyly |
OMIM:217990 |
Waardenburg Syndrome, Type 4B |
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Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Microphthalmia, Micrognathia, Platyspondyly, Short neck, Agenesis of corpus callosum, Ventricular... |
ORPHA:93267 |
Lissencephaly 5 |
|
Leukoencephalopathy, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the corpus callosum, T... |
OMIM:615191 |
Marshall Syndrome |
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Clinodactyly of the 5th finger, Radial bowing, Macrodontia of permanent maxillary central incisor... |
OMIM:154780 |
Thumb Deformity And Alopecia |
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Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
Postaxial Acrofacial Dysostosis |
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Conductive hearing impairment, Supernumerary nipple, Malar flattening, Microtia, Hypoplasia of th... |
ORPHA:246 |
Trisomy 13 |
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Abnormal antihelix morphology, Abnormal helix morphology, Abnormality of the ureter, Optic atroph... |
ORPHA:3378 |
Brachydactyly Type B |
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Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Polydactyly, Postaxial, With Progressive Myopia |
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Postaxial hand polydactyly |
OMIM:174310 |
Vitamin D-Dependent Rickets, Type 2A |
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Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Cariou... |
OMIM:277440 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Dyschondrosteosis And Nephritis |
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Radial bowing, Nephritis, Short tibia, Madelung deformity, Ulnar bowing, Mesomelic short stature,... |
OMIM:127350 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Short stature, Microgn... |
ORPHA:2863 |
Rhyns Syndrome |
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Chronic kidney disease, Radial bowing, Decreased response to growth hormone stimulation test, Nep... |
OMIM:602152 |
Metaphyseal Anadysplasia |
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Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Cenani-Lenz Syndrome |
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Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... |
ORPHA:3258 |
Otopalatodigital Syndrome Type 1 |
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Short distal phalanx of finger, Increased bone mineral density, Cleft palate, Abnormal vertebral ... |
ORPHA:90650 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Holzgreve Syndrome |
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Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:615771 |
Omodysplasia 2 |
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Dislocated radial head, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelic arm shorte... |
OMIM:164745 |
Orofaciodigital Syndrome Viii |
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High palate, Cleft palate, Short stature, Short tibia, Hypoplasia of the epiglottis, Syndactyly, ... |
OMIM:300484 |
Meckel Syndrome, Type 11 |
|
Oligohydramnios, Occipital encephalocele, Polydactyly |
OMIM:615397 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Short neck, 11 pa... |
ORPHA:140 |
Wt Limb-Blood Syndrome |
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Clinodactyly of the 5th finger, Irregular hyperpigmentation, Absent thumb, Retrognathia, Microgna... |
OMIM:194350 |
3M Syndrome |
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Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... |
ORPHA:2616 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... |
ORPHA:75508 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Protruding ear, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges... |
ORPHA:2256 |
Endove Syndrome, Limb-Only Type |
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Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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Decreased thalamic volume, High palate, Cerebral cortical atrophy, Microcephaly, Long philtrum, C... |
OMIM:619072 |
Brachydactyly Type B2 |
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Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Distal Monosomy 10P |
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Ectopic anus, Anal atresia, Joint stiffness, Clinodactyly of the 5th finger, Hypoplasia of penis,... |
ORPHA:1580 |
Uncombable Hair Syndrome |
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Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Lissencephaly 4 |
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Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Adducted thumb, Pes cavus, Microcephaly, Ventriculomegaly, Ag... |
OMIM:303350 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Microgna... |
OMIM:201170 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
Verheij Syndrome |
|
Growth delay, Short stature, Renal agenesis, Hemivertebrae, Microcephaly, Short neck, Scoliosis, ... |
OMIM:615583 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
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Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M... |
ORPHA:79397 |
Joubert Syndrome 30 |
|
Superior cerebellar dysplasia, Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dan... |
OMIM:617622 |
Hartsfield Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, Telecanthus, Non-... |
ORPHA:2117 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
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Long eyelashes, Partial duplication of eyebrows, 2-3 toe syndactyly, 2-4 finger syndactyly |
OMIM:227210 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Agenesis of corpus callosum, Arrhinencephaly, Cere... |
OMIM:218670 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of the dentition, Abnormal... |
ORPHA:1837 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... |
OMIM:613091 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Renal hypoplasia/aplasia, Cleft pala... |
ORPHA:2345 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Camptoda... |
ORPHA:2631 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Gray matter heterotopia, Macroglossia, Optic nerve hypo... |
ORPHA:370959 |
Van Den Ende-Gupta Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid... |
OMIM:600920 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Disproportionate short-limb short stature, Radial bowing, Limited pronation/supination of forearm... |
DECIPHER:58 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... |
DECIPHER:46 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Hemivertebrae, Tracheoes... |
ORPHA:958 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, High palate, Micrognathia, Short humerus, Scoliosis, Rhizomelia, S... |
OMIM:222765 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Gray matter heterotopia, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, O... |
OMIM:615287 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Narrow mouth, Frontal cortical atrophy, Thin vermilion border, Micrognathia, Parietal cortical at... |
OMIM:618766 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Trisomy 1Q |
|
Hydrocephalus, Depressed nasal bridge, Long foot, Downslanted palpebral fissures, Ambiguous genit... |
ORPHA:261344 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissures, Short nose, Sandal gap, Delay... |
OMIM:311300 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Pallister W Syndrome |
|
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Frontal upsweep of hai... |
OMIM:311450 |
Lissencephaly 6 With Microcephaly |
|
Wide mouth, Periventricular heterotopia, Microcephaly, Polymicrogyria, Tapered finger, Partial ag... |
OMIM:616212 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Convex nasal ridge, Short palpebral fissure, Craniosyno... |
OMIM:251230 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly |
ORPHA:2091 |
Meier-Gorlin Syndrome 7 |
|
High palate, Cleft palate, Craniosynostosis, Sagittal craniosynostosis, Anal atresia, Thin eyebro... |
OMIM:617063 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Anal atresia, Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short ... |
OMIM:309620 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Protruding ear, Abnormal hip bone morphology, Add... |
ORPHA:1147 |
Bartsocas-Papas Syndrome 1 |
|
Corneal ulceration, Ablepharon, Ankyloblepharon, Absent thumb, Alopecia, Short neck, Alopecia tot... |
OMIM:263650 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n... |
ORPHA:2162 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Limited pronation/supination of forearm, Clinodactyly of the 5th finger, Proximal ... |
OMIM:605432 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, A... |
ORPHA:352682 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Aganglionic megacolon, Cleft palate, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:220497 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Conductive hearing impairment, Narrow mouth, Talipes equinov... |
OMIM:602471 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
Diastrophic Dysplasia |
|
Macrocephaly, Cleft palate, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar ... |
ORPHA:628 |
Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Short stature, Camptodactyly of finger... |
ORPHA:376 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Median cleft lip, Cleft lower lip |
ORPHA:401942 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Tibial bowing, Recurr... |
OMIM:231070 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Intrauterine growth retardation, Abnormality of finger, Severe short... |
ORPHA:2319 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Femoral-Facial Syndrome |
|
Radioulnar synostosis, Abnormality of fibula morphology, Long penis, Short nose, Vertebral segmen... |
ORPHA:1988 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Delayed eruption of... |
OMIM:305620 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... |
ORPHA:52056 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... |
OMIM:607143 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus |
ORPHA:141333 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe... |
OMIM:131960 |
Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Ventriculomegaly, Agenesis of corpus... |
ORPHA:171703 |
Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate |
OMIM:614402 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Clinodactyly of the 5th finger, Unusual dermatoglyphics, Hypoplasia of the corpus callosum, Downt... |
ORPHA:262767 |
Orofaciodigital Syndrome Type 10 |
|
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly... |
ORPHA:2756 |
Blount Disease, Adolescent |
|
Bowing of the legs, Osteochondritis dissecans, Genu varum |
OMIM:259200 |
Cartilage-Hair Hypoplasia |
|
Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, Accelerated skeletal maturation, Shor... |
ORPHA:175 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... |
OMIM:613885 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Fibula, Recurrent Dislocation Of Head Of |
|
Abnormality of fibula morphology |
OMIM:135800 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Aganglionic megacolon, Cleft palate, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:220493 |
W Syndrome |
|
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... |
ORPHA:2804 |
Langer Mesomelic Dysplasia |
|
High palate, Disproportionate short-limb short stature, Severe short stature, Abnormal morphology... |
ORPHA:2632 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, High palate, Macrocephaly, Cleft palate, Short nail, Femoral ... |
OMIM:114290 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Platyspondyly, Micromelia, Sh... |
OMIM:256050 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Si... |
ORPHA:1692 |
Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... |
ORPHA:1406 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... |
OMIM:218600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Cleft palate, Short nail, Delayed proximal femoral epiphyseal ossification, Platyspo... |
OMIM:271640 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Mild postnat... |
OMIM:101800 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Platyspondyly, Short neck, Ventricular septal defect, Short nose, Cardiomegaly, Flexi... |
OMIM:616897 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal rib morphology, Agenesis of ... |
OMIM:300864 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Intrauterine growth retardation, Postaxial polydactyly, Bilateral t... |
OMIM:618142 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Decreas... |
ORPHA:1263 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Anencephaly, Dilated fourth ven... |
OMIM:614175 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Nephronophthisis, Platyspondyly... |
OMIM:184260 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Distal Monosomy 13Q |
|
Anal atresia, Renal hypoplasia/aplasia, Short stature, Abnormality of the hand, Microcephaly, Ane... |
ORPHA:1590 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Macrocephaly, Slender finger, Sparse hair, Cleft palate, Osteopenia, Short neck, Bro... |
ORPHA:251028 |
Pallister-Hall Syndrome |
|
Cleft palate, Decreased circulating cortisol level, Hemivertebrae, Hypoplasia of the epiglottis, ... |
OMIM:146510 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Monosomy 5P |
|
High palate, Recurrent fractures, Microretrognathia, Short stature, Small hand, Microcephaly, Sho... |
ORPHA:281 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... |
ORPHA:971 |
Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Subependymal Nodular Heterotopia |
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Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Par... |
ORPHA:101030 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
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Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Sparse hair, Malar flatte... |
OMIM:602613 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... |
ORPHA:289157 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Dysplastic corpus callosum, Abnormality of the dentition, Abnormal cerebral white matter morpholo... |
ORPHA:500166 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Wide anterior fontanel, Flexion contracture, Coronal craniosynostosis, Femoral bowing, Arachnodac... |
OMIM:207410 |
Pyle Disease |
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Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Scoliosis, Delayed eruption of teeth,... |
OMIM:265900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Supernumerary tooth, Cleft palate, Short ribs, Preaxial polydactyly, Micrognat... |
OMIM:615948 |
Orofaciodigital Syndrome Xviii |
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Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
Waardenburg Syndrome, Type 3 |
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Sensorineural hearing impairment, Carpal synostosis, Premature graying of hair, Joint contracture... |
OMIM:148820 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Warburg Micro Syndrome 1 |
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Perisylvian polymicrogyria, Overlapping toe, Narrow mouth, Cerebral atrophy, Thin vermilion borde... |
OMIM:600118 |
Keratoconus Posticus Circumscriptus |
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Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation and fusion, Short n... |
OMIM:244600 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Distal Trisomy 15Q |
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High palate, Anal atresia, Joint stiffness, Arachnodactyly, Micrognathia, Camptodactyly of finger... |
ORPHA:1707 |
Joubert Syndrome 4 |
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Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
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Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... |
ORPHA:2491 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:85275 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
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Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
Lissencephaly, X-Linked, 1 |
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Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
Holt-Oram Syndrome |
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Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... |
OMIM:142900 |
Even-Plus Syndrome |
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High palate, Epiphyseal dysplasia, Anal atresia, Severe short stature, Sparse hair, Vertebral cle... |
OMIM:616854 |
Braddock Syndrome |
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Laryngeal web, Short stature, Unilateral renal agenesis, Hemivertebrae, Micrognathia, Short neck,... |
ORPHA:52047 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
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Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... |
OMIM:112450 |
Kbg Syndrome |
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Delayed skeletal maturation, Thick eyebrow, Cleft palate, Short stature, Cutaneous syndactyly, Sh... |
ORPHA:2332 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
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Finger syndactyly, Sparse hair, Alopecia, Camptodactyly of finger, Onychogryposis of fingernail, ... |
ORPHA:2251 |
Inverted Duplicated Chromosome 15 Syndrome |
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High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Precocious ... |
ORPHA:3306 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Hypoplasia of the ul... |
OMIM:612447 |
Brachymesomelia-Renal Syndrome |
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Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Renal insufficiency, Mes... |
OMIM:113470 |
Stuve-Wiedemann Syndrome 1 |
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Enlarged joints, Sparse hair, Femoral bowing, Short neck, Ulnar deviation of finger, Single trans... |
OMIM:601559 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Radially deviated wrists, Coxa vara, Short stature, Reduced arm span, Osteoarthritis, Abnormality... |
ORPHA:166002 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Platysp... |
OMIM:156510 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Cerebral atrophy, Absent septum pellucidum, Upslanted palpebral fissure, Microcephaly, Hypoplasia... |
OMIM:618492 |
Metaphyseal Acroscyphodysplasia |
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Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... |
ORPHA:1240 |
Orofaciodigital Syndrome Iv |
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High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... |
OMIM:258860 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
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Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
Trisomy 18 |
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Anencephaly, Microcornea, Abnormality of the upper limb, Ventricular septal defect, Short nose, C... |
ORPHA:3380 |
Split-Hand/Foot Malformation 1 |
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Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
Van Der Woude Syndrome 2 |
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Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Coxa vara, Metaphyseal irregularity, Short stature, Scoliosis, Genu varum, Short femoral neck, Hy... |
OMIM:184255 |
Dysosteosclerosis |
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Narrow chest, Abnormal metaphyseal trabeculation, Short sternum, Hypoplastic vertebral bodies, Sh... |
OMIM:224300 |
Osteogenesis Imperfecta, Type Ii |
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Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Platyspondyly, Wor... |
OMIM:166210 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Anonychia With Flexural Pigmentation |
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Hypermelanotic macule, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation, Abno... |
ORPHA:69125 |
Coach Syndrome 2 |
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Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:619111 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
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Sparse scalp hair, Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, C... |
OMIM:225280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Hydrocephalus, Gray matter heterotopia, Adducted thumb, Pachygyria, Optic nerve hypoplasia, Cereb... |
OMIM:614643 |
15Q11Q13 Microduplication Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Hypochondroplasia |
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Childhood onset short-limb short stature, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremi... |
OMIM:146000 |
Metachondromatosis |