Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Conductive hearing impairment, Aplasia/Hypoplasia of the mid... |
OMIM:185800 |
Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Otosclerosis, Brachydactyly, Pes planus, Tarsal synostosis, Broad foot |
OMIM:617898 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Stapes ankylosis, Conductive hearing impairment, Congenital stape... |
OMIM:184460 |
Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
Proximal Symphalangism |
|
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly ... |
ORPHA:3250 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankles, Bilateral conductive hearing impairment, Abnormalit... |
ORPHA:2010 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Abnormality of the stapes |
OMIM:124490 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... |
ORPHA:3246 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Sensorineural hearing impairment, Aplasia/Hypo... |
OMIM:611377 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impairment, Symphalangis... |
OMIM:186500 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Sheldon-Hall Syndrome |
|
Joint stiffness, Protruding ear, Abnormal hip bone morphology, Adducted thumb, Overlapping finger... |
ORPHA:1147 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the an... |
ORPHA:968 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ... |
ORPHA:1836 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... |
ORPHA:1822 |
Talonavicular Coalition |
|
Clinodactyly of the 5th finger, Abnormality of the ankles, Short hallux, Coalescence of tarsal bo... |
OMIM:186750 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... |
ORPHA:2496 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, ... |
ORPHA:93351 |
Synostoses, Tarsal, Carpal, And Digital |
|
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... |
OMIM:186400 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... |
OMIM:311300 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Severe sensorineural hearing im... |
ORPHA:363417 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Microtia, Limb undergrowth, Abnormal metacarpal morphology, Atre... |
ORPHA:3429 |
Nievergelt Syndrome |
|
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
Brachydactyly, Mononen Type |
|
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... |
OMIM:301940 |
Otofacioosseous-Gonadal Syndrome |
|
Sensorineural hearing impairment, Carpal synostosis, Protruding ear, Talipes equinovarus, Short h... |
OMIM:601976 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Thimble-sha... |
OMIM:602849 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Carpal synostosis, Multiple pterygia, Craniosynostosis, Low-set, posteriorly rot... |
OMIM:178110 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal morphology of ulna, Spl... |
ORPHA:1307 |
Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... |
ORPHA:3248 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Carpal synostosis, Microtia, Small earlobe, Tarsal synostosis, Humeroradial synostosis |
OMIM:236410 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... |
ORPHA:2741 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Carpal synostosis, Coronal craniosynostosis, Cone-shaped epiphy... |
ORPHA:53271 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... |
OMIM:102510 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankles, Tarsal synostosis |
ORPHA:1412 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Short palm, Brachydactyly, Synostosis of carpal bones |
ORPHA:3238 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Li... |
ORPHA:3265 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
Banki Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... |
ORPHA:1228 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Hearing impairment, Brachydactyly |
ORPHA:35099 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Hallux varus, Broad metatarsal, Short metatar... |
OMIM:123150 |
Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Wide capital femoral epiphyses, Pes planu... |
OMIM:147891 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis |
ORPHA:2064 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Postaxial hand polydactyly, Un... |
OMIM:263540 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Posteriorly rotated ears, Delayed ossification of carpal bones, Macrotia |
OMIM:618392 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Stapes ankylosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, S... |
OMIM:614701 |
Hao-Fountain Syndrome |
|
Clinodactyly of the 5th finger, Delayed cranial suture closure, Hallux valgus, Large fontanelles,... |
OMIM:616863 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Bro... |
OMIM:271650 |
Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... |
OMIM:185700 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Partial fusion of tarsals,... |
OMIM:305620 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Waardenburg Syndrome, Type 3 |
|
Sensorineural hearing impairment, Carpal synostosis, Joint contracture of the hand, Camptodactyly... |
OMIM:148820 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysp... |
ORPHA:71289 |
Waardenburg Syndrome Type 3 |
|
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... |
ORPHA:896 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Fused cervical vertebrae, Tar... |
OMIM:618469 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Sensorineural hearing impairment |
OMIM:136600 |
Cenani-Lenz Syndrome |
|
Protruding ear, Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bon... |
ORPHA:3258 |
Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:165199 |
Dermatoosteolysis, Kirghizian Type |
|
Abnormality of the hand, Osteoarthritis, Brachydactyly, Abnormality of the wrist, Osteolysis, Abn... |
ORPHA:1657 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal pinna morphology, Accelerated skeletal maturation, Short metacarpal, Upper limb undergro... |
ORPHA:93307 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... |
OMIM:609441 |
Seckel Syndrome 7 |
|
Microtia, Clinodactyly, Madelung deformity, Delayed skeletal maturation, Hip dysplasia, Abnormal ... |
OMIM:614851 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Joint stiffness, Clinodactyly of the 5th finger, Abnormal helix mo... |
ORPHA:1005 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... |
OMIM:108120 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Otosclerosis, Femoral bowing present at birth, straightening with time, Redu... |
OMIM:166220 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Short hallux, ... |
ORPHA:337 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Abnormal pinna morphology, Low-set ears, Large fontanelles, Increased bone min... |
ORPHA:90652 |
Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microtia, Short 1st metacarpal, S... |
ORPHA:2438 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
Spondylocarpotarsal Synostosis Syndrome |
|
Sensorineural hearing impairment, Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5t... |
OMIM:272460 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Low-set ears, Metaphyseal cupping, Micromelia, Hypoplasia of the ... |
ORPHA:85166 |
Microphthalmia With Limb Anomalies |
|
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... |
ORPHA:1106 |
Congenital Vertical Talus |
|
Equinus calcaneus, Foot pain, Ankle pain, Abnormality of the foot musculature, Distal arthrogrypo... |
ORPHA:178382 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Pes cavus, Chess-pawn distal phalanges, Bila... |
OMIM:113450 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... |
OMIM:127300 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Winchester Syndrome |
|
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized... |
OMIM:277950 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Hearing impairment, Peripheral axonal neuropathy |
OMIM:617087 |
49,Xyyyy Syndrome |
|
Generalized joint laxity, Finger clinodactyly, Short 5th finger, Low-set, posteriorly rotated ear... |
ORPHA:99330 |
Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Synostosis of carpal bones, Low-set, posteriorly rota... |
ORPHA:3191 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Osteopenia, Metaphyse... |
OMIM:608154 |
Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis |
OMIM:309630 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy, Growth delay, Short stature |
OMIM:616632 |
Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Otosclerosis, Osteopenia, Femoral bowing, Wormian bones, Increased susceptib... |
OMIM:166200 |
Spondylometaphyseal Dysplasia, Axial |
|
Coxa vara, Retinal degeneration, Narrow greater sciatic notch, Splenomegaly, Rod-cone dystrophy, ... |
OMIM:602271 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... |
OMIM:185900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Tenosynovial Giant Cell Tumor |
|
Joint swelling, Joint stiffness, Conductive hearing impairment, Chondrocalcinosis, Abnormality of... |
ORPHA:66627 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of xylitol in CSF, Increased level of D-threitol in CSF, Decreased level of eryth... |
OMIM:608611 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... |
OMIM:615349 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy |
OMIM:609055 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Elbow ankylosis, Craniosynostosis, Femo... |
ORPHA:95699 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Lim... |
ORPHA:3269 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Wide anterior fontanel, Clinodactyly of the 5th finger, Joint disl... |
OMIM:608545 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Metaphyseal dysplasia, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
Ivic Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones,... |
ORPHA:2307 |
Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Conductive hearing impairment, 2-3 toe syndactyly, Coronal craniosynostosis, Pr... |
OMIM:614188 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Short stature, Retinal pigment epithelial... |
OMIM:618889 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Congenital sensorineural hearing impairment, Recurrent otitis media, Low-set e... |
OMIM:157800 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Hearing impairment |
OMIM:165300 |
Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Micromelia, Synostosis of carp... |
ORPHA:3121 |
Roberts Syndrome |
|
Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis,... |
ORPHA:3103 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Juberg-Hayward Syndrome |
|
Abnormality of toe, Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia o... |
OMIM:216100 |
Apert Syndrome |
|
Craniosynostosis, Cutaneous syndactyly, Rhizomelic arm shortening, Sagittal craniosynostosis, Bro... |
OMIM:101200 |
Arthrogryposis, Distal, Type 2B1 |
|
Abnormality of the ear, Talipes equinovarus, Camptodactyly of finger, Ulnar deviation of the wris... |
OMIM:601680 |
Auriculoosteodysplasia |
|
Attached earlobe, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of... |
ORPHA:114 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... |
ORPHA:1350 |
Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Synostosis of carpals/tarsals |
OMIM:269630 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Larsen Syndrome |
|
Short distal phalanx of finger, Large joint dislocations, Laryngotracheomalacia, Conductive heari... |
ORPHA:503 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia, Rhizomelia |
OMIM:166990 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Accelerated skeletal maturation, Knee dis... |
OMIM:618363 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Bowing of the lon... |
ORPHA:1802 |
Arthrogryposis, Distal, Type 11 |
|
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... |
OMIM:620019 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... |
OMIM:105835 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Delayed oss... |
OMIM:609616 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... |
OMIM:614296 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy, Overlapping toe |
OMIM:618572 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Clinodactyly of the 5th finger, Abnormal carpal morphology, Microtia, Limb undergrowth, Madelung ... |
ORPHA:319675 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Alpha-Mannosidosis |
|
Avascular necrosis, Abnormal helix morphology, Chronic otitis media, Arthritis, Synostosis of joi... |
ORPHA:61 |
Pseudoaminopterin Syndrome |
|
Slender finger, Clinodactyly of the 4th finger, Single transverse palmar crease, Sagittal cranios... |
ORPHA:221120 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma |
ORPHA:2732 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature |
OMIM:618160 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Genu valgum, Hip subluxation, Premature osteoarthritis, Rad... |
ORPHA:93360 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Symphalangism affecting the phalanges... |
ORPHA:710 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Wide anterior fontanel, Large posterior fontanelle, Coronal craniosynostosis, Delayed cranial sut... |
ORPHA:85199 |
Abruzzo-Erickson Syndrome |
|
Hearing impairment, Protruding ear, Macrotia, Radioulnar synostosis |
OMIM:302905 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Large earlobe, Clinodactyly of the 5th finger, Unusual dermatoglyphics, Persistent open anterior ... |
ORPHA:262767 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the ear, Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostos... |
ORPHA:457395 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Baller-Gerold Syndrome |
|
Carpal synostosis, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Hypoplasia of ... |
OMIM:218600 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Joint stiffness, Abnormal hip bone morphology, Camptodactyly of finger, Synostosis of carpal bone... |
ORPHA:1323 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Car... |
OMIM:250420 |
Schinzel-Giedion Syndrome |
|
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Sclerosis of skull base, Large ea... |
ORPHA:798 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Ventric... |
OMIM:610333 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of the ear, Abnormality of finger, Large iliac wing, Delayed cranial suture closure, ... |
ORPHA:2511 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
Thai Symphalangism Syndrome |
|
Short toe, Proximal symphalangism of hands, Distal symphalangism of hands, Brachydactyly, Postaxi... |
OMIM:608028 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Wormian bones, Joint hyperflexibility |
ORPHA:2787 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Desbuquois Syndrome |
|
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... |
ORPHA:1425 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Optic atrophy, Ventriculomegaly, Retinal dysplasia, Dandy-Walker malformation |
OMIM:613154 |
Achondroplasia |
|
Bowing of the legs, Hydrocephalus, Trident hand, Flared metaphysis, Brachydactyly, Short femoral ... |
OMIM:100800 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Genu valgum, Hip subluxation, Radial head sublu... |
OMIM:271640 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Small fontanelle, Congenital hip dislocation, Macrotia, Triphalangeal ... |
ORPHA:3078 |
Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly |
OMIM:609428 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Wormian bon... |
OMIM:601356 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Camptodactyly of finger, Flexion contracture of toe, Ventriculomegaly |
OMIM:619323 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Single t... |
OMIM:206920 |
Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Low-set ears, Posteriorly rotated ears, Large fontanelles |
ORPHA:1832 |
Developmental And Epileptic Encephalopathy 36 |
|
Small hand, Optic atrophy, Hydrocephalus, Hepatomegaly |
OMIM:300884 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Cryptorchidism, 2-3 toe syndactyly |
OMIM:617201 |
Merrf |
|
Optic atrophy, Sensorineural hearing impairment, Short stature |
ORPHA:551 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Wrist pain, Metatarsal osteolysis, Osteopenia, Pes cavus, Ankle pain... |
OMIM:166300 |
Char Syndrome |
|
Distal/middle symphalangism of 5th finger, Low-set ears, Clinodactyly of the 5th finger, Protrudi... |
OMIM:169100 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Phalangeal ... |
OMIM:251450 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Ascites, Vent... |
ORPHA:858 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... |
OMIM:614500 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pe... |
OMIM:184252 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Low-set, posteriorl... |
ORPHA:2725 |
Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Failure to thrive |
OMIM:616881 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Delayed cranial suture closure, Broad hallux phalanx, ... |
ORPHA:2249 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Accelerated skeletal maturation, Flared metaphysis, Microm... |
OMIM:215045 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Retinal degenera... |
OMIM:615630 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Progressive hearing impairment, Retinal arteriolar constriction, Bilateral sensorine... |
OMIM:124950 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Flare... |
ORPHA:93346 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Small for gestational age, Optic atrophy, Growth delay, Hearing impairment,... |
OMIM:619057 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Orofaciodigital Syndrome Type 1 |
|
Short toe, Clinodactyly of the 5th finger, Finger syndactyly, Reduced bone mineral density, Cone-... |
ORPHA:2750 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Protruding ear, Increased bone mineral density, Arachnodactyly, Osteoporo... |
OMIM:614856 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Hepatomegaly, Splenomegaly |
ORPHA:139406 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Microtia, Abnormality of the ankles, Upper limb undergrowth, Abnormality of the wri... |
ORPHA:529962 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Carpal synostosis, Conductive hearing impairment, Joint contracture of the hand, Craniosynostosis... |
OMIM:201750 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... |
OMIM:127200 |
Baller-Gerold Syndrome |
|
Conductive hearing impairment, Hand oligodactyly, Aplasia/Hypoplasia of the patella, Aplasia/Hypo... |
ORPHA:1225 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Distal Monosomy 17Q |
|
Abnormal hip bone morphology, Small hand, Microtia, Prominent metopic ridge, Micromelia, Bilatera... |
ORPHA:1597 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Short femur, Stenosis of the e... |
ORPHA:93333 |
Papilloma Of Choroid Plexus |
|
Papilledema, Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Facial palsy, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Premature posterior fontanelle closure, Metopic suture patent to nasal root, Low-set, posteriorly... |
ORPHA:3369 |
Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis |
OMIM:192950 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Limitation of knee mobility, Abnormality of fibula morphology, A... |
ORPHA:321 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Decreased palmar crea... |
ORPHA:2980 |
Cutis Laxa, Autosomal Dominant 3 |
|
Protruding ear, Talipes equinovarus, Adducted thumb, Osteopenia, Delayed cranial suture closure, ... |
OMIM:616603 |
Autosomal Recessive Robinow Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal hip b... |
ORPHA:1507 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Hydrocephalus, Chorioretinal coloboma |
OMIM:300864 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Flared iliac wing, Flexion contracture, Metaphyseal widening, Brachydactyly, Flattened... |
OMIM:300232 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Short toe, Rhizo-meso-acromelic limb shortening, Flexion contrac... |
OMIM:611717 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Delayed cranial suture closure, Syndactyly... |
OMIM:113000 |
Meckel Syndrome, Type 3 |
|
Hydrocephalus, Hepatomegaly, Malformation of the hepatic ductal plate, Polydactyly, Postaxial han... |
OMIM:607361 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad... |
ORPHA:380 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dys... |
OMIM:226980 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Low-set ears, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypop... |
ORPHA:163966 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy |
OMIM:608971 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesome... |
OMIM:171480 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy, Failure to thrive |
OMIM:271930 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures, Wormian bones |
ORPHA:2773 |
Generalized Arterial Calcification Of Infancy |
|
Sensorineural hearing impairment, Stapes ankylosis, Hypophosphatemic rickets, Conductive hearing ... |
ORPHA:51608 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Low-set ears, Camptodactyly of finger, Brachydactyly, Wormian bones |
ORPHA:2863 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Decreased DLCO, ... |
OMIM:607616 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Facial palsy, Optic atrophy, Opt... |
OMIM:611490 |
Acitretin/Etretinate Embryopathy |
|
Microtia, Cupped ear, Abnormality of the calcaneus, Aplasia/hypoplasia involving bones of the upp... |
ORPHA:40366 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Ulnar deviation of the hand ... |
OMIM:600383 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
OMIM:614830 |
Orofaciodigital Syndrome Xvii |
|
Partial duplication of thumb phalanx, Prominent metopic ridge, Short middle phalanx of the 2nd fi... |
OMIM:617926 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Retinopathy, Optic atrophy, Optic disc pallor, Macular atrophy, Intrauterine growt... |
OMIM:616171 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Wormian bones, Slender long bone, Pseudoarthro... |
OMIM:619795 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... |
OMIM:618395 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Segmental peripheral demyelination/remyelin... |
OMIM:311070 |
Diencephalic Syndrome |
|
Optic atrophy, Large hands, Hydrocephalus |
ORPHA:1672 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy, Flexion contracture of toe |
ORPHA:320396 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Neonatal death, Optic atrophy, Hearing impairment, Intrauterine growth retarda... |
OMIM:618237 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S... |
ORPHA:2878 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Hyperextensibility of the finger joint... |
OMIM:228000 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Widely patent fontanelles and sutures, Microtia |
OMIM:168550 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy, Hearing impairment |
OMIM:309555 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Talipes equinovarus, Hip dislocation, Cryptorchidism, Hip dysplasia |
ORPHA:250994 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Coxa vara, Hypoplastic acetabulae, Abnormal hip bone... |
ORPHA:239 |
Larsen Syndrome |
|
Conductive hearing impairment, Short metatarsal, Accessory carpal bones, Talipes equinovarus, Kne... |
OMIM:150250 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Short distal phalanx of finger, Hydrocephalus, Facial palsy, Optic... |
ORPHA:53 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Three M Syndrome 3 |
|
Protruding ear, Clinodactyly of the 5th finger, Slender long bone, Prominent calcaneus, Joint hyp... |
OMIM:614205 |
Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Sensorineural hearing impairment, Abnormal pinna morphology, Cond... |
ORPHA:949 |
Hajdu-Cheney Syndrome |
|
Large earlobe, Dislocated radial head, Conductive hearing impairment, Crowded carpal bones, Osteo... |
OMIM:102500 |
Lamb-Shaffer Syndrome |
|
Overlapping toe, Long hallux, Long fingers, Optic atrophy, Clinodactyly |
OMIM:616803 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Chromosome 16Q22 Deletion Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Prominent metopic ridge, Wormian bones,... |
OMIM:614541 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe... |
OMIM:175700 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Optic atrophy, Fac... |
ORPHA:3152 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... |
OMIM:610967 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Hearing impairment, Rod-cone dystrophy |
OMIM:617717 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly |
ORPHA:796 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal metaphysis morphology, Hepatomegaly, Splenomegaly |
ORPHA:417 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Genu recurvatum, Delayed... |
OMIM:184260 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Talipes equinovarus, Adducted thumb, Congenital hip dislocation, Wide cranial sutures, Wormian bo... |
OMIM:219150 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Abnormal femoral neck/head morphology, Abnormal metatarsal morphology, Limited mo... |
ORPHA:85438 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Thin metacarpal cortices, C1-C2 subluxation, Delayed closure of the anterior fontanel... |
OMIM:259600 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Ellis-Van Creveld Syndrome |
|
Acetabular spurs, Talipes equinovarus, Cone-shaped epiphyses of phalanges 2 to 5, Postaxial hand ... |
OMIM:225500 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Osteogenesis Imperfecta, Type Xii |
|
Wormian bones, Generalized osteoporosis, Progressive hearing impairment, Osteoporosis |
OMIM:613849 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... |
OMIM:613490 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Growth delay, Retinal degeneration |
OMIM:614322 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Menkes Disease |
|
Recurrent fractures, Osteomyelitis, Chondrocalcinosis, Osteoporosis, Wormian bones, Bowing of the... |
ORPHA:565 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly |
ORPHA:2185 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Limb joint contracture, Abnorma... |
ORPHA:93314 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Conductive hearing impairment, Short stature |
ORPHA:1513 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Conductive hearing impairment, Talipes equinovarus, Flexion contracture, ... |
OMIM:602471 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Craniometadiaphyseal Dysplasia |
|
Sclerosis of skull base, Wide anterior fontanel, Osteopenia, Flared metaphysis, Wormian bones, Ge... |
OMIM:269300 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen |
OMIM:618632 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Hearing impairment |
OMIM:614504 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Asci... |
OMIM:269920 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Conductive hearing impairment, Osteopenia, Decreased calvarial ossification,... |
OMIM:616229 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Shallow... |
OMIM:252600 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... |
ORPHA:83468 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Broad hallux phal... |
ORPHA:585 |
Biemond Syndrome Ii |
|
Hydrocephalus, Preaxial hand polydactyly |
OMIM:210350 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Camptodactyly of finger, Optic atroph... |
OMIM:214980 |
Silver-Russell Syndrome |
|
Clinodactyly of the 5th finger, Delayed cranial suture closure, Low-set, posteriorly rotated ears... |
ORPHA:813 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Hydrocephalus, Hepatomegaly, Splenomegaly, Flared metaphysis, Facial palsy, Facial par... |
OMIM:259700 |
Phaver Syndrome |
|
Joint stiffness, Conductive hearing impairment, Overfolded helix, Broad hallux phalanx, Camptodac... |
ORPHA:2876 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Microtia, Iliac crest serration, Micromelia, Wormian bones, Hypoplastic isch... |
OMIM:613320 |
Methylmalonic Acidemia With Homocystinuria |
|
Retinopathy, Hydrocephalus |
ORPHA:26 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... |
OMIM:210720 |
Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Degenerative liver disease, Cone dystrophy |
OMIM:268040 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... |
OMIM:615631 |
Mckusick-Kaufman Syndrome |
|
Brachydactyly, Postaxial hand polydactyly, Abnormal metacarpal morphology, Postaxial foot polydac... |
ORPHA:2473 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Jaundice |
OMIM:129850 |
Weaver Syndrome |
|
Accelerated skeletal maturation, Prominent fingertip pads, Short fourth metatarsal, Single transv... |
OMIM:277590 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Clinodactyly |
OMIM:300928 |
Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Micromelia, Synostosis of carpal bones, Abnormal pelvic girdle bo... |
ORPHA:289 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:269840 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Limitation of joint mobility, Camptodactyly of finger, Slender long bone, Abnormality of the wris... |
ORPHA:2774 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Char Syndrome |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Symphalangism of the 5th finger, Shor... |
ORPHA:46627 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Talipes equinovarus |
OMIM:613162 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Retinal degeneration, Optic atr... |
OMIM:204200 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Long fingers, Recurrent shoulder dislocation, Genu valgum, Pe... |
ORPHA:230851 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Hepatomegaly, Retinal degeneration, Splenomegaly, Broad hallux, Broad thumb, Ventr... |
OMIM:272200 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Retinal dysplasia, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Short long bone, Widely patent ... |
OMIM:228520 |
Fried Syndrome |
|
Hydrocephalus, Abnormality of the optic nerve |
ORPHA:85335 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Wormian bones, Upper limb undergrowth, Pathologic fracture, Short foot, Limitat... |
ORPHA:166277 |
Wolfram-Like Syndrome |
|
Abnormal pinna morphology, Congenital sensorineural hearing impairment, Severe postnatal growth r... |
ORPHA:411590 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis, Talipes equinovarus |
ORPHA:466794 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Sensorineural hearing impairment |
ORPHA:85297 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Short stature, Papilledema, Optic atrophy, Hearing impairment |
OMIM:122860 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Brachydactyly, Wormian bones, Low-set, posteriorly rotated ears, C... |
OMIM:617808 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Knee dislocation, Equinus calcaneus, Abnormality of toe, Arachnodactyly, Osteo... |
ORPHA:536532 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Roifman Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Eosinophilia, Brachydactyl... |
OMIM:616651 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Ventriculomeg... |
OMIM:614120 |
Antley-Bixler Syndrome |
|
Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral ... |
ORPHA:83 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Anemia, Thrombocytopenia, H... |
OMIM:610539 |
Mend Syndrome |
|
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long finger... |
OMIM:300960 |
Krabbe Disease |
|
Hydrocephalus, Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, I... |
OMIM:245200 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Elbow flexion contracture, Respiratory failure requiring assisted ventilation |
OMIM:619303 |
Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Osteopenia, Delayed cranial suture closure, Brachydactyly, Worm... |
OMIM:601812 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, C... |
ORPHA:794 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Optic atrophy, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Large earlobe, Failure to thrive, Decreased body weight, Small for gestational age, Short stature... |
OMIM:618346 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Metap... |
OMIM:300863 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, S... |
OMIM:268305 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor, Intrauterine growth retardation |
OMIM:618776 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... |
OMIM:183802 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Occipital Horn Syndrome |
|
Short clavicles, Coxa valga, Short humerus, Osteoporosis, Limited elbow extension, Pes planus, Ge... |
OMIM:304150 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Optic atrophy, Retrobulbar optic neuritis |
ORPHA:3151 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Clinodactyly of the 5th finger, Hepatomegaly, Prominent fingertip pads, Splenomegaly, Ventriculom... |
OMIM:615637 |
Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Cough, Dyspnea, Lymphadenopathy |
ORPHA:98293 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:163596 |
Mohr Syndrome |
|
Metaphyseal irregularity, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Conduc... |
OMIM:252100 |
Proteus-Like Syndrome |
|
Hydrocephalus, Splenomegaly, Abnormality of the parathyroid gland, Retinal detachment, Communicat... |
ORPHA:2969 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Sensorineural hearing impairment, Proximal symphalangism of hands, Hyperextensibility of the fing... |
OMIM:151050 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Respiratory insufficiency, Ventriculomegaly |
OMIM:618228 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Growth delay |
OMIM:274270 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|