| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow... |
OMIM:201250 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... |
OMIM:112910 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ... |
OMIM:127300 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Léri-Weill Dyschondrosteosis |
|
Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... |
OMIM:250460 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... |
OMIM:113000 |
| Coxopodopatellar Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... |
ORPHA:1509 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Hearing impairment... |
ORPHA:90650 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... |
OMIM:614135 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... |
ORPHA:163665 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga |
OMIM:613618 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... |
ORPHA:2768 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger |
OMIM:259270 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... |
OMIM:618469 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal form of the vertebral bod... |
ORPHA:429 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... |
ORPHA:1802 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... |
ORPHA:1436 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Ankle pain,... |
ORPHA:93308 |
| Distal Arthrogryposis Type 1 |
|
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... |
ORPHA:1146 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... |
OMIM:142669 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr... |
ORPHA:99642 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Narrow pelvis bone, Abno... |
ORPHA:66637 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Talipes equinovar... |
OMIM:601382 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Carpal bone aplasia, Fibular aplasia, Absent ha... |
OMIM:200500 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Thoracic hemivertebrae, Azoospermia, Amenorrhea, EEG abnormality, Fused... |
ORPHA:1445 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... |
OMIM:226900 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Abnormal epiphysis morphology, Delayed skeletal maturation, Reduced bone mineral densi... |
ORPHA:2501 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl... |
OMIM:607078 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Sacral dimple |
OMIM:618845 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Hearing impairment, Short tibia, Radial club hand, Cutaneous finge... |
ORPHA:93322 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio... |
ORPHA:968 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the ... |
ORPHA:2114 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Broad thumb, Short 3rd metacar... |
ORPHA:370010 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler... |
OMIM:609052 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Hip dislocation, Knee dislocation, Hip dysplasia, Scoliosis, Hammertoe |
ORPHA:370943 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Hearing impairment, Genu valgum, Intervertebral space narrowing, Re... |
ORPHA:166011 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
| Fibrodysplasia Ossificans Progressiva |
|
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Hearing impair... |
ORPHA:337 |
| Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development |
|
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Osteochondritis Dissecans |
|
Limitation of joint mobility, Limited elbow flexion, Abnormal joint morphology, Abnormal tibia mo... |
ORPHA:2764 |
| Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic... |
OMIM:620076 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Isolated Klippel-Feil Syndrome |
|
Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal c... |
ORPHA:2345 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
| Christian Syndrome |
|
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... |
OMIM:309620 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular... |
OMIM:612447 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Delayed skeletal maturatio... |
ORPHA:85198 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... |
OMIM:244600 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral... |
OMIM:135100 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... |
ORPHA:174 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Hear... |
ORPHA:1856 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Absent radius,... |
ORPHA:3320 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... |
ORPHA:3329 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology |
OMIM:269630 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Sc... |
OMIM:122600 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ... |
OMIM:151200 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture... |
OMIM:178110 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Low-set, posteriorly r... |
ORPHA:2631 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta... |
ORPHA:56305 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Sensorineural hearing impairment, Pes planus, Beaking of vertebral bodies... |
OMIM:609616 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing... |
ORPHA:485 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion,... |
OMIM:214300 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... |
OMIM:619598 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra... |
OMIM:610967 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Coxa valga, Arthritis, Hip dysplasia |
OMIM:615612 |
| Aase-Smith Syndrome |
|
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:916 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment |
OMIM:608653 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Stap... |
OMIM:184460 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Wildervanck Syndrome |
|
Pseudopapilledema, Hearing impairment, Fused cervical vertebrae |
OMIM:314600 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy... |
OMIM:228930 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
| Atelosteogenesis, Type Ii |
|
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... |
OMIM:256050 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... |
ORPHA:2639 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Low-set, posterior... |
ORPHA:2370 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Kbg Syndrome |
|
Bilateral conductive hearing impairment, Persistent open anterior fontanelle, Finger clinodactyly... |
ORPHA:2332 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed skeletal maturat... |
ORPHA:63442 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/... |
OMIM:118100 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Elevated circulating hepatic t... |
ORPHA:356961 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Hearing impairmen... |
ORPHA:1508 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral senso... |
OMIM:611102 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... |
ORPHA:93311 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Joint hypermo... |
ORPHA:1803 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Abnormal jo... |
ORPHA:93351 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal form of the vertebral bodies, Cli... |
ORPHA:2916 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... |
OMIM:272460 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion, T... |
ORPHA:313892 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... |
ORPHA:166016 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo... |
ORPHA:1106 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Capitate-hamate fusion, Hearing impairment, Short toe, Knee dislocation... |
OMIM:614078 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly rot... |
ORPHA:915 |
| Multiple Pterygium Syndrome, X-Linked |
|
Low-set ears, Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fracture... |
OMIM:312150 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bon... |
OMIM:601559 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Recurrent otitis media, Microcephalic sperm head, Redu... |
OMIM:301101 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u... |
OMIM:119100 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowin... |
OMIM:608728 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, Finger... |
ORPHA:3250 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Elbow dislocat... |
OMIM:108721 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Limitat... |
ORPHA:93307 |
| Femoral-Facial Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal s... |
ORPHA:1988 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... |
ORPHA:93284 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Calf muscle hypertrophy, Thigh hypertrophy, Hyperlordosis, Achilles tendon con... |
OMIM:606612 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Low-set ears, Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fracture... |
OMIM:253290 |
| Verheij Syndrome |
|
Short 5th finger, Clinodactyly, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion,... |
OMIM:615583 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shorten... |
OMIM:268305 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Palmoplantar keratoderma, Abnormality of the vertebral column, O... |
ORPHA:2206 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Low-set ears, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of... |
OMIM:201170 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... |
OMIM:610797 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Delayed skeletal maturat... |
ORPHA:1837 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubi... |
ORPHA:314795 |
| Familial Congenital Mirror Movements |
|
Hypogonadotropic hypogonadism, Fused cervical vertebrae |
ORPHA:238722 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| 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 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Broad long bones, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Pes... |
OMIM:601455 |
| Microcephaly-Micromelia Syndrome |
|
Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... |
OMIM:251230 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... |
ORPHA:2378 |
| Atelosteogenesis, Type I |
|
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes e... |
OMIM:108720 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab... |
ORPHA:93316 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility, Sensorineural hearing impairment |
ORPHA:94064 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Facial para... |
OMIM:166600 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Microg... |
ORPHA:1147 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... |
OMIM:112350 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:617960 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Hepatomega... |
OMIM:602557 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... |
ORPHA:83468 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Talipes equinovarus, Beaki... |
OMIM:150250 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge... |
OMIM:305620 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Low-set ears, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Fu... |
ORPHA:2522 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Low-set ears, Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Th... |
OMIM:616549 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Pseudopapilledema, Short neck, Facial palsy, Fused c... |
ORPHA:3456 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... |
OMIM:617519 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619528 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Auriculoosteodysplasia |
|
Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the radius, Elbow dislocation, Abnormal... |
ORPHA:114 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact... |
ORPHA:2633 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis |
ORPHA:1646 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Toe syndactyly, Hearing impairment, Broad thumb, Hypoplastic iliac win... |
OMIM:609945 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Calf muscle hypertrophy, Hyperlordosis, Thigh hypertrophy, Achilles tendon contracture, Vertebral... |
OMIM:607155 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Hearing impairment, Hip contracture, Talipes equinovarus, Short ne... |
OMIM:193700 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Missing rib... |
OMIM:613686 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Micrognathia, Facet joint arthrosis, Generalized joint hypermobilit... |
OMIM:618000 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Orofaciodigital Syndrome Iv |
|
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial po... |
OMIM:258860 |
| Omodysplasia 1 |
|
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,... |
OMIM:258315 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ... |
OMIM:184250 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Sensorine... |
ORPHA:959 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... |
OMIM:156550 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... |
ORPHA:3027 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Hearing impairment... |
ORPHA:1826 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Thoracic kyphosis, Micrognathia, Hip dysplasia, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Azoospermia, Male infertility |
OMIM:619145 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Equinovarus deformity, Recurrent otitis media, Broad foot, Broad phalanx, Metaphyseal dysplasia, ... |
ORPHA:2502 |
| Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... |
ORPHA:90652 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decreased mobility 3rd-5th fin... |
OMIM:164900 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Sensorineural hearing im... |
OMIM:607143 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Abnormal tibia morphology, ... |
ORPHA:2496 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Spin... |
OMIM:307800 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Abnormality of the vertebral column, Sensorineural hearing i... |
OMIM:109120 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect |
ORPHA:2956 |
| Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormal joint morphology, Abnormality of the wrist, Abnormal femu... |
ORPHA:3130 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image f... |
OMIM:119800 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... |
ORPHA:1788 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... |
OMIM:616300 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Conductive hearing impairment, Abnormality of the vertebr... |
OMIM:607634 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Low-set ears, Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Fin... |
ORPHA:3429 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Low-set ears, Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Pa... |
OMIM:265000 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact... |
OMIM:268310 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L... |
OMIM:203500 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Cholestasis, Osteomalacia, Humerus varus, G... |
ORPHA:198 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thora... |
ORPHA:457395 |
| Codas Syndrome |
|
Congenital hip dislocation, Crumpled ear, Abnormal pelvic girdle bone morphology, Abnormal epiphy... |
ORPHA:1458 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ... |
OMIM:123000 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Micr... |
ORPHA:2097 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Short tibia, Preaxial polydactyly, Micrognathia, Absent gallbladder, Fibular hypopl... |
OMIM:617925 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Recurrent otitis media, Rhizomel... |
OMIM:164745 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Hearing impairment, Spinal canal stenosis, Micrognathia, Down-sloping shoulders, Ve... |
ORPHA:1724 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... |
ORPHA:96334 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hearing impairment, Abnormal form of the vertebral bodies, Endometriosis, Vertebral segmentation ... |
ORPHA:3109 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Delayed skeletal maturation, Os odontoideum, Irregular epiph... |
OMIM:619260 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Microphthalmia With Limb Anomalies |
|
Low-set ears, 2-3 toe cutaneous syndactyly, Hip dislocation, Capitate-hamate fusion, Toe syndacty... |
OMIM:206920 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Hearing impairment, Slender long bone, Micrognathia, Bowing of limbs due to multiple fr... |
OMIM:259420 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Short clavicles, Wormian bones, Tapered finger, Hyp... |
OMIM:617159 |
| Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... |
OMIM:274000 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibula, Low-set, posteriorly rotat... |
ORPHA:958 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Low-set, ... |
ORPHA:1486 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Sclerosis of... |
OMIM:130720 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Overfolded helix, Vertebral segmentation defect, Protruding ear, Arachnodactyly, Joint ... |
ORPHA:96169 |
| Koolen-De Vries Syndrome |
|
Slender finger, Kyphosis, Prominent fingertip pads, Sacral dimple, Positional foot deformity, Ove... |
OMIM:610443 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Low-set ears, Joint hypermobility, Cervical C2/C3 vertebral fusion, Talipes equinovarus, Camptoda... |
OMIM:617333 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Incr... |
OMIM:608940 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Absent... |
OMIM:607323 |
| Fibrochondrogenesis 1 |
|
Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, ... |
OMIM:228520 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Hearing impairment, Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly, Hyperexte... |
OMIM:227330 |
| Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
| Kbg Syndrome |
|
Radial deviation of finger, Delayed skeletal maturation, Ulnar deviation of the 2nd finger, Thora... |
OMIM:148050 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Hepatic fibrosis, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Prea... |
OMIM:263520 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Conductive hearing impairment, Absent thumb, Short thumb, Short neck, Fused... |
OMIM:609053 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Polydactyly, Short ribs, Shor... |
OMIM:109400 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Campomelic Dysplasia |
|
Low-set ears, Small abnormally formed scapulae, Kyphosis, Hearing impairment, Tracheomalacia, 11 ... |
ORPHA:140 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Short neck, Hemivertebrae, Ve... |
OMIM:271520 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Wormian b... |
OMIM:166210 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... |
OMIM:222765 |
| Myhre Syndrome |
|
Low-set ears, Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Hearing impairm... |
OMIM:139210 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Abnormal ... |
ORPHA:508498 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Broad finger, Abnormal auditory evoked potentials, Abnormality of visual evoke... |
OMIM:617523 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, Short toe, Thumb contracture, Abnormal foot mo... |
ORPHA:171929 |
| Kyphomelic Dysplasia |
|
Low-set ears, Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared meta... |
OMIM:211350 |
| Cousin Syndrome |
|
Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Hearing impairment, Hypoplasti... |
OMIM:260660 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Plantar pits, Vertebral wedging, Arachnodactyly, Hypogonadotropic ... |
ORPHA:377 |
| Shashi-Pena Syndrome |
|
Low-set ears, Cupped ear, Kyphosis, Cervical C2/C3 vertebral fusion, Accelerated skeletal maturat... |
OMIM:617190 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bone pain, Enlargement of the wrists... |
OMIM:600081 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Splenomegaly, Joint swelling, Hepatomegaly, Osteolysis, Fused cervical... |
OMIM:612852 |
| Orofaciodigital Syndrome X |
|
Finger aplasia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polydactyly |
OMIM:165590 |
| Simpson-Golabi-Behmel Syndrome |
|
Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Broad foot, Talipes eq... |
ORPHA:373 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o... |
ORPHA:3035 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys... |
OMIM:210720 |
