Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Stapes ankylosis, Conductive hea... |
OMIM:185800 |
Multiple Synostoses Syndrome 4 |
|
Broad foot, Otosclerosis, Overlapping toe, Brachydactyly, Tarsal synostosis, Pes planus |
OMIM:617898 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis, Proximal/middle sym... |
OMIM:184460 |
Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Hearing abnormality, Progressive fusion 2nd-5th pip joints, Shor... |
OMIM:186570 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... |
ORPHA:3250 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Reduced proximal interphalangeal joint space, Abnormal palmar derm... |
ORPHA:3246 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Abnormality of the ankle, Abnormality of the wrist, Carp... |
ORPHA:2010 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... |
ORPHA:3232 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... |
OMIM:128980 |
Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... |
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 |
|
Round ear, Ulnar deviation of the wrist, Ulnar deviation of finger, Joint stiffness, Adducted thu... |
ORPHA:1147 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... |
ORPHA:90650 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... |
ORPHA:968 |
Dysplasia Epiphysealis Hemimelica |
|
Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Osteoarthritis, Accelerated... |
ORPHA:1822 |
Steel Syndrome |
|
Sensorineural hearing impairment, Coxa vara, Hip dislocation, Carpal synostosis, Clinodactyly of ... |
OMIM:615155 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
Talonavicular Coalition |
|
Proximal/middle symphalangism of 5th finger, Foot pain, Coalescence of tarsal bones, Clinodactyly... |
OMIM:186750 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short metacarpal, Short lon... |
OMIM:614078 |
Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Synostoses, Tarsal, Carpal, And Digital |
|
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... |
OMIM:186400 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tibial deviation of the 2nd toe, Short hallux, Radial deviation of finger, Abnormal digit morphol... |
ORPHA:363417 |
Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Short 4th metacarpal, ... |
OMIM:311300 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Mesomelia-Synostoses Syndrome |
|
Genu valgum, Abnormality of the knee, Abnormal foot morphology, Abnormality of the humerus, Synos... |
ORPHA:2496 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Brachydactyly, Syndacty... |
OMIM:605282 |
Muenke Syndrome |
|
Short middle phalanx of toe, Sensorineural hearing impairment, Capitate-hamate fusion, Coronal cr... |
OMIM:602849 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... |
ORPHA:1307 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Microtia, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morpholo... |
ORPHA:3429 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Nievergelt Syndrome |
|
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Tarsal synostosis, Talipes equinovarus... |
OMIM:163400 |
Craniosynostosis, Adelaide Type |
|
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... |
OMIM:600593 |
Radial Hemimelia |
|
Deviation of the hand or of fingers of the hand, Aplasia of the 1st metacarpal, Abnormality of th... |
ORPHA:93321 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Small earlobe, Humeroradial synostosis, Microtia, Carpal synostosis, Tarsal synostosis |
OMIM:236410 |
Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Jackson-Weiss Syndrome |
|
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... |
OMIM:123150 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Coronal craniosynostosis, Carpal synostosis, Short palm, Tarsal... |
ORPHA:53271 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Abnormality of the ankle |
ORPHA:1412 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... |
OMIM:178110 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormality of the wrist, Limitation of joint m... |
ORPHA:3265 |
Cardiospondylocarpofacial Syndrome |
|
Short palm, Synostosis of carpal bones, Conductive hearing impairment, Brachydactyly |
ORPHA:3238 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Hearing impairment, Brachydactyly |
ORPHA:35099 |
Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... |
ORPHA:957 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Hearing impairment, Optic atrophy |
OMIM:617717 |
Banki Syndrome |
|
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... |
ORPHA:1228 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... |
ORPHA:2741 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short 1st metacarpal, Broad middle phalanx of finger, Delayed ossification of carpal bones, Clino... |
OMIM:182255 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Flat capital femoral epip... |
OMIM:147891 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... |
ORPHA:750 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Joint stiffness, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Stapes ankylosis, Coxa vara, Short femoral neck, Radioulnar synostosis, Clino... |
OMIM:614701 |
Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... |
ORPHA:71289 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... |
OMIM:305620 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ... |
OMIM:185700 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad femoral neck, Genu valgum, Upper limb undergrowth, Broad foot, Coxa vara, Capitate-hamate f... |
OMIM:271650 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, T... |
OMIM:618469 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Sensorineural hearing impairment, Joint contracture of the hand, Cutaneo... |
OMIM:148820 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin... |
ORPHA:896 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Talipes equinovaru... |
OMIM:206920 |
Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Hallux valgus, Clinodactyly of the 5th finger, Large fontanelles,... |
OMIM:616863 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Macrotia, Short femoral neck, Delayed ossification of carpal bones, Brachydactyly, Posteriorly ro... |
OMIM:618392 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:165199 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... |
ORPHA:2634 |
Dermatoosteolysis, Kirghizian Type |
|
Abnormal foot morphology, Abnormality of the wrist, Osteolysis, Abnormal diaphysis morphology, Ab... |
ORPHA:1657 |
Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Microtia, Hip dysplasia, Clin... |
OMIM:614851 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Elbow flexion contracture, Stiff ankle, Metatarsal syn... |
ORPHA:93307 |
Ivic Syndrome |
|
Limited interphalangeal movement, Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limi... |
OMIM:147750 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Macrotia, Finger syndactyly, Abnormality of the elbow, Synostosis ... |
ORPHA:1005 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, Bilateral sensorineural hearing impairment, 1-2 toe syndactyly, 4-5 t... |
ORPHA:488232 |
Arthrogryposis, Distal, Type 1A |
|
Ulnar deviation of the hand or of fingers of the hand, Elbow flexion contracture, Camptodactyly, ... |
OMIM:108120 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... |
ORPHA:2632 |
Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis |
OMIM:156232 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... |
OMIM:609441 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
Spondylocarpotarsal Synostosis Syndrome |
|
C2-C3 subluxation, Vertebral fusion, Sensorineural hearing impairment, Coxa vara, Capitate-hamate... |
OMIM:272460 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Synostosis of carpal ... |
ORPHA:90652 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Otosclerosis, R... |
OMIM:166220 |
Hand-Foot-Genital Syndrome |
|
Short first metatarsal, Short 1st metacarpal, Microtia, Synostosis of carpal bones, Clinodactyly ... |
ORPHA:2438 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Ectopic ossification in ligament tissue, Clinodactyly of the 5th finger, Abnormali... |
ORPHA:337 |
Congenital Vertical Talus |
|
Distal arthrogryposis, Abnormality of the foot musculature, Foot pain, Achilles tendon contractur... |
ORPHA:178382 |
Talo-Patello-Scaphoid Osteolysis |
|
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
ORPHA:50809 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Winchester Syndrome |
|
Arthropathy, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Osteolysis involving... |
OMIM:277950 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Sagittal craniosynostosis, Distal symphalangism of hands, 3-4 finger syndacty... |
OMIM:185900 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Abnormal carpal morphology, Hypoplastic pelvis, Hypoplasia of th... |
ORPHA:85166 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Synostosis of carpal bones, Bilateral single transverse palmar... |
ORPHA:3191 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Short stature, Growth delay, Optic atrophy |
OMIM:616632 |
Osteogenesis Imperfecta, Type I |
|
Increased susceptibility to fractures, Otosclerosis, Recurrent fractures, Femoral bowing, Joint h... |
OMIM:166200 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Hearing impairment, Optic atrophy |
OMIM:617087 |
49,Xyyyy Syndrome |
|
Short 5th finger, Generalized joint laxity, Bridged palmar crease, Lop ear, Radioulnar synostosis... |
ORPHA:99330 |
Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Conductive hearing impairment, Synovial hypertrophy, Abnormality of the ... |
ORPHA:66627 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Conductive hearing impairment, Flexion contracture, Humeroradial s... |
ORPHA:95699 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Sensorineural hearing impairment, Short femoral neck, Slender long bones with narrow... |
OMIM:608154 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of xylitol in CSF, Increased level of D-threitol in CSF, Optic atrophy, Increased... |
OMIM:608611 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... |
ORPHA:3269 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Rod-cone dystrophy, Vacuolated lymphocytes, Optic atrophy |
OMIM:609055 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin... |
ORPHA:2756 |
Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... |
ORPHA:2307 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Joint dislocation, Wide anterior fontanel, Clinodactyly of the 5th... |
OMIM:608545 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Coxa vara, Optic atrophy, Cone/cone-rod dystrophy, Short femoral neck, Retina... |
OMIM:602271 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... |
OMIM:309630 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Optic atrophy |
ORPHA:1538 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Sag... |
OMIM:614188 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Delayed skeletal maturation... |
OMIM:617974 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Conductive hearing impairment, Pseudoepiphyses, Enlarged vestibula... |
OMIM:157800 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Short stature, Retinal degeneration, Retinal pigment epithelial... |
OMIM:618889 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Hearing impairment, Optic atrophy |
OMIM:165300 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... |
OMIM:617719 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... |
OMIM:177170 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
OMIM:609655 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Ankle clonus, ... |
ORPHA:1435 |
Apert Syndrome |
|
Delayed cranial suture closure, Humeroradial synostosis, Large fontanelles, Postaxial hand polyda... |
OMIM:101200 |
Arthrogryposis, Distal, Type 2B1 |
|
Camptodactyly of finger, Absent phalangeal crease, Distal arthrogryposis, Ulnar deviation of the ... |
OMIM:601680 |
Juberg-Hayward Syndrome |
|
Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Abno... |
OMIM:216100 |
Auriculoosteodysplasia |
|
Macrotia, Aplasia/Hypoplasia of the earlobes, Hip dysplasia, Abnormal metacarpal morphology, Abno... |
ORPHA:114 |
Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... |
ORPHA:3121 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Roberts Syndrome |
|
Wrist flexion contracture, Phocomelia, Radial deviation of finger, Synostosis of carpal bones, Pr... |
ORPHA:3103 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of f... |
ORPHA:1802 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Arthrogryposis, Distal, Type 11 |
|
Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ... |
OMIM:620019 |
Larsen Syndrome |
|
Accessory carpal bones, Conductive hearing impairment, Finger syndactyly, Large joint dislocation... |
ORPHA:503 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... |
OMIM:614296 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Chorioretinal coloboma, Optic atrophy, Ventriculomegaly |
ORPHA:2732 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed ossification of carpal bones... |
OMIM:105835 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Increased susceptibility to fractures, Advanced ossification of carpal bones, Hypoplastic ilia, H... |
OMIM:615349 |
Alpha-Mannosidosis |
|
Macrotia, Avascular necrosis, Hypoplastic inferior ilia, Hip dysplasia, Arthritis, Synostosis of ... |
ORPHA:61 |
Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... |
OMIM:221300 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Clinodactyly of the 5th toe, Clubbing of fingers, Overlapp... |
ORPHA:221120 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Sensorineural hearing impairment, Short foot, Hypoplastic pubic bone, Enl... |
OMIM:609616 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... |
ORPHA:710 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Progressive forearm bowing, Ulnar deviation of the hand or of fingers of... |
OMIM:600383 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... |
OMIM:228900 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Aplastic clavicle, Wide anterior fontanel, Coronal craniosynostos... |
ORPHA:85199 |
Abruzzo-Erickson Syndrome |
|
Macrotia, Radioulnar synostosis, Hearing impairment, Protruding ear |
OMIM:302905 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Microtia, Hip dysplasia, Clin... |
ORPHA:319675 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Clinodactyly of the 5th finger, Large earlobe, Unusual dermatoglyphics, Broad toe, Persistent ope... |
ORPHA:262767 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... |
ORPHA:3216 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Broad foot, Conductive hearing impairment, Flat glenoid fossa, Short palm, Genu valgum, Metaphyse... |
OMIM:250420 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, Abnormal... |
ORPHA:1323 |
Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Hypoplastic pubic bone, Low-set ears, Short 1st metac... |
ORPHA:798 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hearing abnormality, Cone-shaped epiphysis, Abnormal finger morph... |
ORPHA:2511 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Coxa valga, Coxa vara, Small hand, Patellar dislocation, Accelerated ske... |
ORPHA:1425 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Absent trapezium, Apla... |
OMIM:606895 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Sensorineural hearing impairment, Optic atrophy |
OMIM:620086 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Attenuation of retinal blood vessels, Failure to thrive, Intrauterine growth retardation, Optic d... |
OMIM:617082 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Aicardi-Goutieres Syndrome 4 |
|
Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, CSF... |
OMIM:610333 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporosis, Wormian bones |
ORPHA:2787 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hydrocephalus |
OMIM:166990 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Macrotia, Small fontanelle, Contractures of the large joints, Equinovarus de... |
ORPHA:3078 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Dislocated radial hea... |
OMIM:603546 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Char Syndrome |
|
Low-set ears, Clinodactyly of the 5th finger, Protruding ear, Distal/middle symphalangism of 5th ... |
OMIM:169100 |
Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
Combined Saposin Deficiency |
|
Optic atrophy, Splenomegaly, Hepatomegaly |
OMIM:611721 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Optic atrophy, Small hand, Hepatomegaly |
OMIM:300884 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Ventriculomegaly, Optic atrophy, Flexion contracture of toe |
OMIM:619323 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Genu valgum, Advanced ossification of carpal bones, Coxa valga, Short femoral neck, Hip contractu... |
OMIM:618363 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint mobility, Abnormal pel... |
ORPHA:2725 |
Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Low-set ears, Large fontanelles, Posteriorly rotated ears |
ORPHA:1832 |
Congenital Toxoplasmosis |
|
Anemia, Ventriculomegaly, Ascites, Jaundice, Hydrocephalus, Abnormality of retinal pigmentation, ... |
ORPHA:858 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Wrist pain, Metatarsal ost... |
OMIM:166300 |
Merrf |
|
Short stature, Sensorineural hearing impairment, Optic atrophy |
ORPHA:551 |
Baller-Gerold Syndrome |
|
Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Aphalangy of the hands,... |
OMIM:218600 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Abnormal foot morphology, Elbow flexion contracture, Flared iliac wing, Flat acetabula... |
OMIM:184252 |
Joubert Syndrome 33 |
|
Apnea, Syndactyly, Splenomegaly, Cone/cone-rod dystrophy |
OMIM:617767 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Genu valgum, Ventriculomegaly, Short long bone, Retinal degeneration, Hydroceph... |
OMIM:615630 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Hip dislocation, Phocome... |
OMIM:274000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Restricted large joint movement, Short long bone, Delayed ossification of... |
ORPHA:93346 |
Orofaciodigital Syndrome Type 1 |
|
Short toe, Preaxial hand polydactyly, Cone-shaped epiphysis, Finger syndactyly, Foot polydactyly,... |
ORPHA:2750 |
Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Papilledema, Progressive hearing impairment, Bilateral sensorine... |
OMIM:124950 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Treacher Collins Syndrome 2 |
|
Fusion of middle ear ossicles, Conductive hearing impairment, Anotia, Microtia |
OMIM:613717 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Small for gestational age, Severe short stature, Growth delay, Intrauterine growth... |
OMIM:619057 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Genu valgum, Hypoplastic acetabulae, Broad femoral neck, Coxa vara, Wide p... |
ORPHA:239 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Abnormal carpal morphology, Abnor... |
ORPHA:1225 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Hearing impairment, Optic atrophy |
ORPHA:1186 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot, Arthritis |
OMIM:192950 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hip dislocation, Protruding ear, Adducted thumb, Wormian bones, O... |
OMIM:616603 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short femoral neck, Short metacarpal, Microtia, Narrow pelvis bone, Carpal bone hypoplasia, Femor... |
OMIM:616723 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, Multiple suture craniosynostosis, Premature posterior fontan... |
ORPHA:3369 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Short femur, Brachydactyly,... |
ORPHA:93333 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hydrocephalus, Optic atrophy |
OMIM:619470 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Conductive hearing impairment, Sensorineural hearing impairm... |
ORPHA:2980 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Sensorineural hearing impairment... |
OMIM:194350 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Postaxial... |
OMIM:607361 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Dyspnea, Bone-marrow foam cells, Hep... |
OMIM:607616 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... |
ORPHA:380 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Failure to thrive, Intrauterine growth retardation, Neonatal death, Hearing impair... |
OMIM:618237 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Genu valgum, Cranial nerve compression, Optic atrophy, Hydrocephalus, Pancytopenia, Hepat... |
OMIM:259710 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Stippled calci... |
ORPHA:51608 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Hypoplasia of the radius, Ulnar deviation of finger, Elbow disloc... |
ORPHA:2249 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures, Wormian bones |
ORPHA:2773 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... |
OMIM:113000 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Toe syndactyly, Synostosis of carpal bones, Clinodact... |
ORPHA:1507 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Acitretin/Etretinate Embryopathy |
|
Abnormality of the calcaneus, Microtia, Aplasia/hypoplasia involving bones of the upper limbs, An... |
ORPHA:40366 |
Striatonigral Degeneration, Infantile |
|
Failure to thrive, Optic atrophy |
OMIM:271930 |
Distal Monosomy 17Q |
|
Aplasia/Hypoplasia of the thumb, Small hand, Microtia, Abnormal metacarpal morphology, Prominent ... |
ORPHA:1597 |
Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Genu valgum, Abnormality of the knee, Abnormal hand morph... |
ORPHA:321 |
Immunodeficiency 104 |
|
T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:608971 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hip subluxation, Genu valgum, Coxa valga, Irregular carpal bones, Ivory epiphyses of the phalange... |
OMIM:226980 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb,... |
OMIM:171480 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Low-set ears, Wormian bones, Brachydactyly |
ORPHA:2863 |
1Q21.1 Microduplication Syndrome |
|
Hip dysplasia, Hydrocephalus, Hip dislocation, Cryptorchidism, Talipes equinovarus |
ORPHA:250994 |
17Q24.2 Microdeletion Syndrome |
|
Upper limb undergrowth, Otosclerosis, Microtia, Abnormality of the wrist, Recurrent otitis media,... |
ORPHA:529962 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Slender long bone, Multiple prenatal fractures, Reduced bone mineral density... |
OMIM:619795 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of the ankle, Wormian b... |
ORPHA:970 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Tapered finger, Short femoral neck, Patellar dislocation, Multiple join... |
OMIM:618395 |
Diencephalic Syndrome |
|
Large hands, Hydrocephalus, Optic atrophy |
ORPHA:1672 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Hypoplastic iliac wing, Short toe, Flexion contracture, Short foot, Shor... |
OMIM:611717 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Aplastic clavicle, Wide anterior fontanel, Delayed ossification of carpa... |
OMIM:620099 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Hearin... |
OMIM:311070 |
Smith-Mccort Dysplasia 2 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Short metacar... |
OMIM:615222 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Prominent... |
OMIM:617926 |
Osteogenesis Imperfecta, Type V |
|
Anterior radial head dislocation, Hyperextensibility of the finger joints, Recurrent fractures, P... |
OMIM:610967 |
Larsen Syndrome |
|
Vertebral fusion, Conductive hearing impairment, Accessory carpal bones, Spatulate thumbs, Short ... |
OMIM:150250 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Metaphyseal chondrodysplasia, M... |
ORPHA:163966 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Widely patent fontanelles and sutures, Microtia |
OMIM:168550 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Hearing impairment, Optic atrophy |
OMIM:309555 |
Chromosome 16Q22 Deletion Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Hip dysplasia, Prominent metopic ridge,... |
OMIM:614541 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Farber Lipogranulomatosis |
|
Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Osteolysis involving ... |
OMIM:228000 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Optic atrophy |
OMIM:617281 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Genu valgum, Optic atrophy, Abnormal metacarpal morphology, Hydrocephalus, Short distal p... |
ORPHA:53 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Ventriculomegaly, Joint contracture of the hand, Preaxial foot polydac... |
OMIM:175700 |
Acrocraniofacial Dysostosis |
|
Triphalangeal thumb, Genu valgum, Conductive hearing impairment, Sensorineural hearing impairment... |
ORPHA:949 |
Three M Syndrome 3 |
|
Hip dysplasia, Slender long bone, Clinodactyly of the 5th finger, Joint hypermobility, Prominent ... |
OMIM:614205 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Radial club hand, Aplasia/Hypopla... |
ORPHA:2878 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal metaphysis morphology, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia |
ORPHA:228312 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Failure to thrive, Sensorineural hearing impairment, Intrauterine growth retardation, Optic atrophy |
OMIM:300475 |
Sandhoff Disease |
|
Cherry red spot of the macula, Splenomegaly, Hepatomegaly |
ORPHA:796 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Accelerated skeletal maturation, Generalized osteosclerosi... |
OMIM:215045 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Metacarpal osteolysis, Pes... |
OMIM:259600 |
Sclerosteosis |
|
Finger syndactyly, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of the hand, Dia... |
ORPHA:3152 |
Masa Syndrome |
|
Adducted thumb, Hydrocephalus, Ventriculomegaly, Talipes equinovarus |
OMIM:303350 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short long bone, Cone-shaped epiphys... |
OMIM:225500 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Bronchiectasis, Hepatocellular carcinoma, Chronic pulmonary obstruction,... |
OMIM:613490 |
Congenital Hydrocephalus |
|
Ventriculomegaly, Optic atrophy, Macular hypoplasia, Hydrocephalus, Colpocephaly |
ORPHA:2185 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Oligoarthritis, Thickened Achilles tendon, Abnormality of the elbow, Abnorm... |
ORPHA:85438 |
Trimethylaminuria |
|
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen, Prelingual sensorineural hearing impairment |
OMIM:618632 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Aplasia/Hypoplasia o... |
ORPHA:2876 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Optic atrophy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:615085 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hypoplastic iliac wing, Genu varum, Genu valgum, Metaphyseal irregularity, Coxa vara, Hypoplastic... |
OMIM:613330 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Osteogenesis Imperfecta, Type Xiii |
|
Wide pubic symphysis, Wide distal femoral metaphysis, Angulated humerus, Recurrent fractures, Inc... |
OMIM:614856 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Menkes Disease |
|
Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Joint hyperflexibility, Abnormal metaphysi... |
ORPHA:565 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrocephalus, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocy... |
OMIM:269920 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... |
OMIM:617514 |
Craniodiaphyseal Dysplasia |
|
Short stature, Conductive hearing impairment, Optic atrophy |
ORPHA:1513 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, CSF pleocytosis, Hepatomegaly, Increased CSF interferon alpha, Thrombocytopenia... |
OMIM:615010 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormal bone ossification, Increased bone miner... |
ORPHA:166119 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Hearing impairment |
OMIM:614504 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Growth delay, Optic atrophy |
OMIM:614322 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Solitary Bone Cyst |
|
Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the long bones, ... |
ORPHA:83468 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Postaxial foot polydactyly, Brachydactyly, Pos... |
ORPHA:2473 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Coxa valga, Wide anterior fontanel, Flared metaphysis, Osteopenia, Cubit... |
OMIM:269300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... |
OMIM:609260 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Flar... |
OMIM:184260 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Silver-Russell Syndrome |
|
Delayed cranial suture closure, Abnormality of the calcaneus, Clinodactyly of the 5th finger, Upp... |
ORPHA:813 |
Osteogenesis Imperfecta, Type Xii |
|
Progressive hearing impairment, Hyperextensibility of the finger joints, Recurrent fractures, Bow... |
OMIM:613849 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Narrow pelvis bone, Delayed skeletal maturation, Limited elbow extension, Pseudoepiphyses of the ... |
OMIM:210720 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Hydrocephalus, Abnormality of retinal ... |
ORPHA:585 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Absent phalangeal crease, Recurrent shoulder dislocation, Genu valgum, Joint dislocation, Hallux ... |
ORPHA:230851 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... |
ORPHA:251380 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Coxa vara, Optic atrophy, Hydrocephalus, Pancytopenia, Flared metaphysis, Hepatomegaly, F... |
OMIM:259700 |
Methylmalonic Acidemia With Homocystinuria |
|
Retinopathy, Hydrocephalus |
ORPHA:26 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... |
OMIM:223800 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:620102 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Peg-like central prominence of distal tibial metaphyses, Broad foot, Flexion contracture, Coxa va... |
OMIM:300232 |
Mucolipidosis Iii Alpha/Beta |
|
Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Split hand, Soft tissue swelling... |
OMIM:252600 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Clinodactyly, Wormian bones, Brachydactyly, Low-set ears, Posterio... |
OMIM:617808 |
Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Wrist swelling, Camptodactyly of finger, Slender long bone, Abnormality of the wrist, Limitation ... |
ORPHA:2774 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Short middle phalanx of the 5th finger, Toe syndactyly, Hand polydact... |
ORPHA:46627 |
Roifman Syndrome |
|
Short toe, Hip contracture, Short metacarpal, Retinal dystrophy, Short digit, Clinodactyly of the... |
OMIM:616651 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Optic atrophy, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Optic disc pallor, Spleno... |
OMIM:611490 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Crowded carpal bones, Foot acroosteolysis, Condu... |
OMIM:102500 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Delayed ossification of pubic rami, Joint contracture, Hip disloca... |
OMIM:602471 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Broad foot, Conductive hearing impairment, Humeroradial synostosis, Joint contracture of the hand... |
OMIM:201750 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl... |
OMIM:615631 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Pneumonia, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Optic atrophy |
OMIM:300928 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Vacuolated lymphoc... |
OMIM:204200 |
Retinitis Pigmentosa 63 |
|
Rod-cone dystrophy, Optic disc pallor |
OMIM:614494 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Elbow ankylosis, Na... |
ORPHA:83 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Pes cavus, Radial deviation of f... |
OMIM:277590 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Osteogenesis Imperfecta, Type Xvi |
|
Conductive hearing impairment, Recurrent fractures, Short long bone, Joint hypermobility, Osteope... |
OMIM:616229 |
Multiple Sulfatase Deficiency |
|
Peripheral demyelination, Ventriculomegaly, Retinal degeneration, Hydrocephalus, Broad hallux, Br... |
OMIM:272200 |
Fried Syndrome |
|
Abnormal optic nerve morphology, Hydrocephalus |
ORPHA:85335 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Metaphyseal cupping, Microtia, Short long bone, Hypoplastic ischia, Large ... |
OMIM:613320 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Limitation of joint mobility, Pathologic fracture, Toe clinodactyly, Shor... |
ORPHA:166277 |
Kleeblattschaedel |
|
Elbow ankylosis, Hydrocephalus |
OMIM:148800 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Ventriculomegaly, Clinodactyly of the 5th finger, Recurrent pneumonia, Hepatomegaly, Prominent fi... |
OMIM:615637 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydacty... |
OMIM:614120 |
Ellis Van Creveld Syndrome |
|
Genu valgum, Capitate-hamate fusion, Foot polydactyly, Synostosis of carpal bones, Hand polydacty... |
ORPHA:289 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Broad hallux, Syndactyly... |
OMIM:212780 |
Wolfram-Like Syndrome |
|
Optic atrophy, Delayed puberty, Peripheral axonal neuropathy, Congenital sensorineural hearing im... |
ORPHA:411590 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Macrotia, Radioulnar dislocation, Hallux valgus, Joint dislocation, Abnorma... |
ORPHA:536532 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Hydrocephalus, Anemia |
OMIM:619302 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Widely patent coronal suture, Short foot, Joint contracture of the han... |
OMIM:228520 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Vitamin K Antagonist Embryofetopathy |
|
Respiratory insufficiency, Myelomeningocele, Optic atrophy, Epiphyseal stippling, Hydrocephalus, ... |
ORPHA:1914 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Hepatomegaly, Thrombocytopenia, ... |
OMIM:610539 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Triphalangeal thumb, Delayed cranial suture closure, Conductive he... |
ORPHA:794 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Krabbe Disease |
|
Optic atrophy, Hydrocephalus, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, I... |
OMIM:245200 |
Night Blindness, Congenital Stationary, Type 1G |
|
Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor |
OMIM:616389 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Abnormal leukocyte morphology, Optic atrophy |
ORPHA:3151 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Intrauterine growth retardation, Optic atrophy |
OMIM:618776 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... |
OMIM:614900 |
Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Polycystic ovaries, Retinal detachment, Abnormality o... |
ORPHA:2969 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatic fibrosis, Talipes equinovarus, Optic atrophy, Hepatosplenomegaly |
ORPHA:466794 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Decreased body weight, Optic atrophy, Short stature, Small for gestational age, Large earlobe, Fa... |
OMIM:618346 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Optic atrophy, Triceps weakness, Hydrocephalus, Senso... |
ORPHA:99947 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Short stature, Optic atrophy, Facial diplegia, Papilledema, Hearing impairment |
OMIM:122860 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hydrocephalus, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Ventriculomegaly, Optic atrophy |
OMIM:618228 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Mohr Syndrome |
|
Metaphyseal irregularity, Conductive hearing impairment, Preaxial hand polydactyly, Preaxial foot... |
OMIM:252100 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Dyspnea, Cough, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Grant Syndrome |
|
Joint dislocation, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Larg... |
ORPHA:2097 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Hypoxemia, Clubbing, Pleural effus... |
OMIM:612387 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
Infantile Cerebellar-Retinal Degeneration |
|
Sensorineural hearing impairment, Decreased body weight, Optic atrophy, Retinal dystrophy, Failur... |
OMIM:614559 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventriculomegaly, Hydrocephalus, Syndactyly, Leukemia |
OMIM:602501 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Bowing of limbs due to multiple fractures, Wide anterior fontanel, Recurrent... |
OMIM:259420 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Hydrocephalus, Retinal coloboma, Cryptorchidism |
OMIM:601794 |
Glut1 Deficiency Syndrome 2 |
|
Hypoglycorrhachia, Hemolytic anemia, Reticulocytosis, Increased CSF lactate, Splenomegaly |
OMIM:612126 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Three M Syndrome 2 |
|
Short 5th finger, Slender long bone, Clinodactyly, Prominent calcaneus, Delayed skeletal maturati... |
OMIM:612921 |