| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
| Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... |
ORPHA:2098 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
| Coxopodopatellar Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1509 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... |
OMIM:605274 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysp... |
ORPHA:71289 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... |
OMIM:113000 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Limitation of joint mobility, Increased bone mineral density, Abn... |
ORPHA:90650 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia |
OMIM:613618 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Blount Disease |
|
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
| Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly,... |
ORPHA:429 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormal form of the vertebral bodies, Abnormality... |
ORPHA:1802 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... |
OMIM:618469 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Arthralgia of the hip, Knee pain, Hip subluxation, Dysplasia of the femoral head, ... |
ORPHA:99642 |
| Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu... |
OMIM:142669 |
| Distal Arthrogryposis Type 1 |
|
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlappi... |
ORPHA:1146 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Hip dysplasia, Brachyd... |
OMIM:226900 |
| Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, EEG abnormality, Fused thoracic vertebrae, Small hand, Syndactyly, Scoli... |
ORPHA:1445 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Foot pain, Irregular epiphyses, Genu varum, Flattened epiphysis, Osteochond... |
OMIM:600204 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Talipes equinovarus, Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evok... |
OMIM:601382 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... |
OMIM:609052 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... |
ORPHA:66637 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Abnormality of the ankles, Brachydactyly, Short thumb, Scoliosis, Cuboidal metac... |
ORPHA:968 |
| Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Knee pain, Intervert... |
ORPHA:166011 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Microt... |
OMIM:171480 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Micrognathia, Vertebral fusion, Macrotia |
OMIM:221950 |
| Fibrodysplasia Ossificans Progressiva |
|
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... |
OMIM:135100 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga |
OMIM:271620 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion, Short long bone, Sacral dimple |
OMIM:618845 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Knee dislocation, Scoliosis, Hammertoe, Hip dislocation, Hip dysplasia |
ORPHA:370943 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Glenoid fossa hypoplasi... |
ORPHA:85170 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... |
OMIM:309620 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Missing ribs, Block vertebrae... |
OMIM:613686 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
| Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
| Osteochondritis Dissecans |
|
Joint swelling, Joint stiffness, Quadriceps muscle atrophy, Decreased hip abduction, Abnormal mus... |
ORPHA:2764 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... |
ORPHA:166002 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Abnormal... |
ORPHA:2345 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
| Verheij Syndrome |
|
Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly, Hip dislocation, Vertebral ... |
OMIM:615583 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Overfolded helix, Camptodactyly of f... |
ORPHA:2631 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Sensorineural hearing impairment, Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger,... |
ORPHA:3320 |
| Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation, Talipes equi... |
ORPHA:56305 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Missing ribs, Vertebral... |
OMIM:122600 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
| Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis |
OMIM:615612 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Hearing impairment, Pseudopapilledema |
OMIM:314600 |
| Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal joint morphol... |
ORPHA:485 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... |
OMIM:263540 |
| Aase-Smith Syndrome |
|
Joint stiffness, Abnormal pinna morphology, Multiple joint contractures, Talipes equinovarus, Sle... |
ORPHA:916 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Short metatarsal, Genu recur... |
OMIM:151200 |
| Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... |
OMIM:135750 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... |
ORPHA:1505 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Cervi... |
OMIM:214300 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... |
ORPHA:2639 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... |
OMIM:183849 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Low-set, posteriorly... |
ORPHA:2370 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Short ribs, Abno... |
OMIM:613330 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing... |
OMIM:184460 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... |
ORPHA:63442 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Coxoauricular Syndrome |
|
Abnormality of femur morphology, Microtia, Reduced bone mineral density, Micromelia, Atresia of t... |
ORPHA:1508 |
| Thoracomelic Dysplasia |
|
Short ribs, Short neck, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu v... |
ORPHA:1803 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Multiple small vertebral fractures, Decreased hip abduction, Back pain, Osteoart... |
ORPHA:93311 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bo... |
ORPHA:2916 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Kbg Syndrome |
|
Delayed skeletal maturation, EEG abnormality, Cutaneous syndactyly, Short neck, Bilateral conduct... |
ORPHA:2332 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... |
OMIM:118100 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... |
ORPHA:93351 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Hepat... |
OMIM:602557 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... |
ORPHA:2634 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Flat capital femoral epiphy... |
OMIM:601560 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... |
ORPHA:166016 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Facial palsy, Ver... |
OMIM:606612 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar de... |
ORPHA:2928 |
| Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb |
OMIM:108450 |
| Brachydactyly, Mononen Type |
|
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... |
OMIM:301940 |
| Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... |
ORPHA:93430 |
| Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Genu recurvatum, Abnormal vertebral segmentation and fusion, Smal... |
ORPHA:915 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Micrognathia, Abnormal cervical curvat... |
OMIM:312150 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Slc35A2-Cdg |
|
Sensorineural hearing impairment, Talipes equinovarus, Joint hypermobility, Craniosynostosis, EEG... |
ORPHA:356961 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... |
ORPHA:93359 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Osteoarthritis, Abnormality of the vertebral column, Palmoplanta... |
ORPHA:2206 |
| Gorlin Syndrome |
|
Arachnodactyly, Hypogonadotropic hypogonadism, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral... |
ORPHA:377 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... |
ORPHA:337 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal pinna morphology, Short metacarpal, Accelerated skeletal maturation, Arthralgia of the h... |
ORPHA:93307 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proxim... |
OMIM:601559 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... |
ORPHA:1837 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... |
OMIM:119100 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Micrognathia, Abnormal cervical curvat... |
OMIM:253290 |
| Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, M... |
ORPHA:1988 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Short neck... |
OMIM:251230 |
| Proximal Symphalangism |
|
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Elbow ankylosis, Finger syndact... |
ORPHA:3250 |
| Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Micrognat... |
OMIM:108721 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
| Microphthalmia With Limb Anomalies |
|
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislocation, Large ea... |
ORPHA:1106 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... |
ORPHA:1427 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Protruding ear, Adducted thumb, Abnormal hip bone... |
ORPHA:1147 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Azoospermia, Male infertility |
ORPHA:94064 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Hypoplasia of the ulna, Flared femora... |
ORPHA:85188 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Block vertebrae, Delayed skeletal maturation, Vertebral segmentation defect, Carpal s... |
OMIM:272460 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
| Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum, Cubitus val... |
ORPHA:314795 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Low-set, posteriorl... |
ORPHA:2725 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... |
OMIM:607143 |
| Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Anterior tibial b... |
OMIM:112350 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... |
OMIM:617519 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... |
OMIM:108720 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
| Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Short neck, Pseudopapilledema, Fused cervical verteb... |
ORPHA:3456 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Short 1st meta... |
OMIM:201050 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Fused cervical v... |
ORPHA:2522 |
| Auriculoosteodysplasia |
|
Attached earlobe, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of... |
ORPHA:114 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... |
ORPHA:239 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Genu valgum, Partial fusio... |
OMIM:305620 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Slender fi... |
OMIM:609813 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Radioulnar... |
OMIM:164900 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Micrognathia, Short neck, Thoracolumbar sco... |
OMIM:616549 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Acromesomelic Dysplasia 3 |
|
Delayed skeletal maturation, Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes... |
OMIM:609441 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... |
OMIM:609945 |
| Acro-Renal-Ocular Syndrome |
|
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Vertebral segmentation... |
ORPHA:959 |
| Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendon, Arthritis, Limitation of k... |
OMIM:203500 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Arthrogryposis, Distal, Type 2A |
|
Flexion contracture of finger, Short neck, Rocker bottom foot, Joint dislocation, Talipes equinov... |
OMIM:193700 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Talipes equinovarus, Decreased motor nerve conduction velocity, Facial palsy, Pes cavus, Scoliosi... |
OMIM:601596 |
| Omodysplasia 1 |
|
Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Short tibia, Sh... |
OMIM:258315 |
| Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Scoliosis, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia |
ORPHA:530983 |
| Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
| Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovaru... |
ORPHA:3027 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Bowing of the long bones, Elbow dislocation, Carpal synostosis, Increa... |
ORPHA:90652 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones |
OMIM:138930 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Vertebral fusion,... |
OMIM:607155 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Distal Monosomy 17Q |
|
Hepatomegaly, Microtia, Abnormal hip bone morphology, Small hand, Prominent metopic ridge, Microm... |
ORPHA:1597 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Joint hypermobility, Gener... |
OMIM:618000 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... |
ORPHA:1826 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Conductive hearing impairment, Broad phalanx, Metaphyseal dysplasia, Bowing of the legs, Aplasia/... |
ORPHA:2502 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Microtia, Micrognathia, Abnormal form of the vertebral bodies, A... |
ORPHA:3429 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormality of the vertebral column, Abnormal auditory evoked p... |
OMIM:109120 |
| Kniest Dysplasia |
|
Enlarged joints, Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Dumbbell-shaped long ... |
OMIM:156550 |
| Satoyoshi Syndrome |
|
Amenorrhea, Abnormality of femur morphology, Hypoplasia of the ovary, Abnormal metaphysis morphol... |
ORPHA:3130 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Slender long bone, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... |
ORPHA:2840 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... |
OMIM:304950 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the distal phalanx of... |
OMIM:268310 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
| Codas Syndrome |
|
Sensorineural hearing impairment, Coronal cleft vertebrae, Overfolded helix, Congenital hip dislo... |
ORPHA:1458 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... |
OMIM:119800 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal motor evoked potentials, Pes cavus, Abnormal auditory ... |
ORPHA:320401 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... |
OMIM:265000 |
| Jeune Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot poly... |
ORPHA:474 |
| Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Platyspondyly, ... |
ORPHA:198 |
| Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
| Lateral Meningocele Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Kyphosis, Sclerosis of sku... |
OMIM:130720 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Talipes equinovarus, Postaxial polydactyly, Pr... |
OMIM:613091 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Microt... |
ORPHA:1788 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
| Grant Syndrome |
|
Joint dislocation, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Wormia... |
ORPHA:2097 |
| Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Narrow greater sciatic notch, Microtia, Postaxial polydactyly, Preaxia... |
OMIM:617925 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... |
OMIM:300106 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Kyphosis, Micrognathia, Decreased calvarial ossification, Bow... |
OMIM:259420 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... |
ORPHA:96334 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Low-set, posteriorly... |
ORPHA:1486 |
| Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... |
ORPHA:1724 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma, Absent tibia |
ORPHA:1757 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Hypogonadotropic hypogonadism, Cupped ear, Wormian bones, Tapered finger, Short ... |
OMIM:617159 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Talipes cavus equinovarus, Decreased nerve conduction velocity, Abnormal audi... |
OMIM:601455 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Koolen-De Vries Syndrome |
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Vertebral segmentation defect, Kyphosis, Protruding ear, Overfolded helix, Arachnodactyly, Scolio... |
ORPHA:96169 |
| Spermatogenic Failure 38 |
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Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
| Acro-Renal-Mandibular Syndrome |
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Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hemivertebrae,... |
ORPHA:958 |
| Microphthalmia With Limb Anomalies |
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Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Irregular epiphyses, Biconcave vertebral bodies, Scoliosis, Opt... |
OMIM:619260 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
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Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... |
OMIM:245160 |
| Fibrochondrogenesis 1 |
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Abnormal pinna morphology, Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Shor... |
OMIM:228520 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Metaphyseal irregularity, Tibial bowing, Widely patent fontanelles and sutures, Delayed epiphysea... |
OMIM:600081 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Short ribs, Pancreatic fibrosis, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot, ... |
OMIM:263520 |
| Hypophosphatemic Rickets, X-Linked Dominant |
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Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... |
OMIM:307800 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
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Clinodactyly of the 5th finger, Microtia, Down-sloping shoulders, Syndactyly, Camptodactyly, Shor... |
OMIM:227330 |
| Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Low-set ears, Small abnormally formed scapulae, Tibial bowing... |
ORPHA:140 |
| Cousin Syndrome |
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Microtia, first degree, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5... |
OMIM:260660 |
| Kbg Syndrome |
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Delayed skeletal maturation, Protruding ear, Clinodactyly of the 5th finger, Ulnar deviation of t... |
OMIM:148050 |
| Duane-Radial Ray Syndrome |
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Sensorineural hearing impairment, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, S... |
OMIM:607323 |
| Acheiropodia |
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Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Otopalatodigital Syndrome, Type Ii |
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Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
| Fanconi Anemia, Complementation Group I |
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Conductive hearing impairment, Absent thumb, Hypoplasia of the radius, Optic nerve hypoplasia, Sh... |
OMIM:609053 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Missing ribs, Block ve... |
OMIM:271520 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Spondylolisthesis, Slender finger, Prominent fingertip pads, Joint hypermobility, Overf... |
OMIM:610443 |
| Basal Cell Nevus Syndrome |
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Short distal phalanx of the thumb, Kyphoscoliosis, Short ribs, Hemivertebrae, Down-sloping should... |
OMIM:109400 |
| Duane Retraction Syndrome |
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Sensorineural hearing impairment, Talipes equinovarus, Abnormal vertebral segmentation and fusion... |
ORPHA:233 |
| Acrocraniofacial Dysostosis |
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Abnormal pinna morphology, Craniosynostosis, Short 1st metacarpal, Tapered finger, Ulnar deviatio... |
ORPHA:949 |
| Isochromosomy Yq |
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Azoospermia, Male infertility |
ORPHA:98798 |
| Myhre Syndrome |
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Low-set ears, Overlapping toe, Short toe, 2-3 toe syndactyly, Joint stiffness, Limitation of join... |
OMIM:139210 |
| Trisomy 10P |
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EEG with focal spikes, Flexion contracture of thumb, Short toe, Talipes equinovarus, Micrognathia... |
ORPHA:171929 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Exocrine pancreatic insufficiency, Short neck, Broad hallux, Hypermobility of inte... |
ORPHA:508498 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
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Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Micrognathia, Campt... |
ORPHA:1323 |
| Larsen Syndrome |
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Short distal phalanx of finger, Conductive hearing impairment, Large joint dislocations, Vertebra... |
ORPHA:503 |
| Cartilage-Hair Hypoplasia |
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Hepatomegaly, Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Microme... |
ORPHA:175 |
| Simpson-Golabi-Behmel Syndrome |
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Abnormal helix morphology, Accelerated skeletal maturation, Hepatomegaly, Hepatoblastoma, Congeni... |
ORPHA:373 |
| Craniosynostosis With Fibular Aplasia |
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Fibular aplasia, Craniosynostosis |
OMIM:218550 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... |
OMIM:210720 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... |
OMIM:143095 |
| Camurati-Engelmann Disease |
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Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Optic atrophy, Genu va... |
ORPHA:1328 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... |
OMIM:211350 |
| Arnold-Chiari Malformation Type I |
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Cervical C2/C3 vertebral fusion, Cranial nerve compression, Abnormality of the eleventh cranial n... |
ORPHA:268882 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Joint swelling, Osteomyelitis, Hepatomegaly, Splenomegaly, Osteopenia, Fused cervical vertebrae, ... |
OMIM:612852 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Micrognathia, Abnormal... |
ORPHA:3035 |
| Hypocalcemic Vitamin D-Resistant Rickets |
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Bone pain, Recurrent fractures, Joint dislocation, Abnormal hip bone morphology, Scoliosis, Genu ... |
ORPHA:93160 |
| Eiken Syndrome |
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Delayed epiphyseal ossification, Long hallux, Delayed ossification of carpal bones, Delayed tarsa... |
OMIM:600002 |
| Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
| Acrorenal-Mandibular Syndrome |
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Kyphoscoliosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Hand polydactyly, Micr... |
OMIM:200980 |
| Mohr-Tranebjaerg Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
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