| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Osebold-Remondini Syndrome |
|
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... |
OMIM:112910 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling, Short 3rd metacarpal,... |
OMIM:118651 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma... |
OMIM:127300 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Talipes equinovalgus, Abnormal foot morphology, Hip d... |
OMIM:605274 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
| Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Osteoarthritis, Abnormality o... |
ORPHA:429 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Distal Arthrogryposis Type 1 |
|
Talipes, Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Ulnar deviation of finger,... |
ORPHA:1146 |
| Beukes Hip Dysplasia |
|
Avascular necrosis of the capital femoral epiphysis, Flat capital femoral epiphysis, Osteoarthrit... |
OMIM:142669 |
| Eiken Syndrome |
|
Short palm, Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal... |
ORPHA:79106 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Tal... |
OMIM:601382 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... |
ORPHA:66637 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, EEG abnormality, Infertility, Scol... |
ORPHA:1445 |
| Acheiropody |
|
Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of the ulna, Absent radiu... |
OMIM:200500 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... |
ORPHA:1570 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Osteoarthritis, Abnormal ossification... |
ORPHA:2114 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Delayed skeletal maturation, F... |
OMIM:612447 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Protruding ear,... |
ORPHA:93315 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... |
ORPHA:93356 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Hip dislocation, Knee dislocation, Hip dysplasia, Hammertoe, Scoliosis |
ORPHA:370943 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ul... |
OMIM:620076 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal cranial nerve morphology, Abnormal shoulder morp... |
ORPHA:2345 |
| Osteochondritis Dissecans |
|
Abnormality of the knee, Decreased hip abduction, Quadriceps muscle atrophy, Joint stiffness, Abn... |
ORPHA:2764 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General... |
ORPHA:85198 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Ulnar deviate... |
ORPHA:166002 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Tali... |
ORPHA:1856 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the p... |
ORPHA:3320 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... |
ORPHA:2631 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... |
OMIM:178110 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... |
OMIM:122600 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthr... |
OMIM:602111 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Hearing impairment |
OMIM:314600 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... |
ORPHA:2332 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Fused cervical vertebrae... |
OMIM:214300 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga |
OMIM:615612 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... |
ORPHA:916 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur... |
OMIM:610967 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Reduced bone mineral de... |
ORPHA:2370 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed skeletal maturation, Short 1st metacarpal, Joint hyperflexibility, Hip dysplasia, Short m... |
ORPHA:63442 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
| Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Pes planus, Genu recurvatum, Camptodactyly ... |
ORPHA:915 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
| Slc35A2-Cdg |
|
Elevated hepatic transaminase, Osteopenia, Limb joint contracture, Camptodactyly of finger, Crani... |
ORPHA:356961 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Joint hype... |
ORPHA:1803 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Radial head s... |
ORPHA:2634 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Aplasia/Hypoplasia of ... |
ORPHA:2916 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Coxa vara, Abnormal fibula... |
ORPHA:1988 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Hearing impairment, Micrognathia, Capitate-hamate fusion, Rad... |
OMIM:614078 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Plantar pits, He... |
ORPHA:377 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Decreased nerve conduction ... |
ORPHA:2928 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... |
OMIM:608728 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... |
OMIM:608940 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Cupped ear, Hand monodacty... |
OMIM:119100 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin... |
OMIM:601559 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap... |
ORPHA:93307 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae, Hip dislocatio... |
OMIM:615583 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormality of the vertebral column, Palmoplantar keratoderma, Abnormal pelvis bo... |
ORPHA:2206 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... |
OMIM:268305 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... |
OMIM:108721 |
| Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Pes planus, Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral he... |
OMIM:610797 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:201170 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo... |
ORPHA:1837 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Shox-Related Short Stature |
|
Short neck, Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... |
ORPHA:314795 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Fused cervical vertebrae, ... |
ORPHA:3456 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid... |
OMIM:150250 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Craniosynostosis, Short neck, Absent thumb, Humeroradial synostosis, Ab... |
OMIM:251230 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Short neck, Micrognathia, Ulnar... |
ORPHA:1147 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
| 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 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Scoliosis, Conductive hea... |
OMIM:118100 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... |
ORPHA:83468 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Abnormal pelvic girdle bone morpholog... |
OMIM:144750 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal hip bone mo... |
ORPHA:2522 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... |
OMIM:305620 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Low-set ears, Cervical C2... |
OMIM:616549 |
| Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Abnormal iliac w... |
ORPHA:3027 |
| Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... |
OMIM:193700 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Pes planus, Short neck, Micrognathia, Cryptorchidi... |
OMIM:618000 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Microgna... |
OMIM:258315 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:601455 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Auriculoosteodysplasia |
|
Attached earlobe, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of th... |
ORPHA:114 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Delayed... |
OMIM:609441 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... |
ORPHA:3429 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Abnormal pinna morphology, Cryptorchidism, Se... |
OMIM:607143 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusi... |
ORPHA:959 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... |
OMIM:184250 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Conductive hearing ... |
ORPHA:1826 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... |
OMIM:607155 |
| Grant Syndrome |
|
Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia |
OMIM:138930 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Late... |
OMIM:164900 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... |
OMIM:156550 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... |
OMIM:109120 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... |
OMIM:607634 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Hyperlordosis, Tapered finger, Abnormality of the humerus, Abnormal join... |
ORPHA:3130 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... |
ORPHA:1788 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment, Facial palsy, Metaphyseal widening, Flared metaphysis, Sclerosis of sku... |
OMIM:123000 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Spinal... |
OMIM:307800 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Extrahepatic biliary duct atresia, Delayed skeletal... |
ORPHA:1458 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Shor... |
ORPHA:457395 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Kyphosis, Cryptorchid... |
ORPHA:1724 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Cupped ear, Flat acetabular roof, ... |
OMIM:617159 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Hypoplastic iliac wi... |
ORPHA:96334 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Posteriorly rotated ears, Short neck, Micrognathia, Kyphosis, Cryptorchidism, C... |
OMIM:130720 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Protruding ear, Join... |
ORPHA:96169 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Short neck, P... |
OMIM:617925 |
| Omodysplasia 2 |
|
Short humerus, Dyspareunia, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Short 1st met... |
OMIM:164745 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Joint hyperflexibility, Abnormal pelvi... |
ORPHA:2097 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adduct... |
OMIM:227330 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Delayed skeletal maturati... |
OMIM:619260 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Anteverted ears, Kyphosis, Cryptorchidi... |
OMIM:610443 |
| Moebius Syndrome |
|
Syndactyly, Pes planus, Brachydactyly, Hypogonadotropic hypogonadism, Abnormal pinna morphology, ... |
OMIM:157900 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Short neck, Cryptorchidism, Delayed skele... |
OMIM:148050 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Short neck, Micrognathia, Abnormality of ... |
ORPHA:1486 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Mic... |
OMIM:618150 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermob... |
OMIM:617333 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... |
OMIM:607323 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused ce... |
OMIM:609053 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Vertebral fusion, Cryptorchidism, Short toe, 2-3 toe syndacty... |
OMIM:139210 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Short ribs, Scoliosis... |
OMIM:271520 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Plantar pits, Irregular ossification of... |
OMIM:109400 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... |
ORPHA:233 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Vertebral segmentation d... |
ORPHA:373 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Abnormal optic disc morph... |
ORPHA:508498 |
| Trisomy 10P |
|
Absent gallbladder, Wide cranial sutures, Thumb contracture, Posteriorly rotated ears, Abnormal a... |
ORPHA:171929 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydacty... |
OMIM:603671 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the musculature of the lower limbs, Cranial nerve compression, Abnorma... |
ORPHA:268882 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Posteriorly rotated ears, Accelerated skeletal maturation, Kyphosis, Cupped ear... |
OMIM:617190 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Splenomegaly, Osteolysis, Fused cervical vertebrae, Join... |
OMIM:612852 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Splenomegal... |
ORPHA:3035 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Mis... |
OMIM:206900 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Micrognathia, Vertebr... |
ORPHA:1323 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Conductive hearing impairment, Accessory spl... |
OMIM:194190 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Posteriorly rotated ears, Kyphoscol... |
OMIM:200980 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Pes planus, Overlapping... |
OMIM:213980 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Optic disc coloboma, Small hand, Optic atrophy, Protruding ear, EE... |
ORPHA:50 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Conductive hearing impairment, Short tibia, Adacty... |
ORPHA:2751 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger |
OMIM:617523 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Flexion contracture,... |
OMIM:222765 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Accelerated skeletal maturation, Sh... |
ORPHA:3144 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineu... |
OMIM:617796 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Short neck, Aplasia o... |
ORPHA:2879 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Oligozoospermia, Macroorchidism, Accelerated skeletal maturation |
ORPHA:3000 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Talipe... |
OMIM:210600 |
| Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobility, Bowing of the legs |
OMIM:114000 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... |
OMIM:208500 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Flexion contracture, Hemivertebrae, Flat glenoid fossa, Cutaneous ... |
OMIM:224690 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ... |
ORPHA:1452 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Absent Achi... |
ORPHA:1215 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Tho... |
ORPHA:909 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, D... |
ORPHA:79239 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Micrognathia, Abnormality of the spleen, Missing ribs, Abnor... |
ORPHA:1834 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Sensorineural hea... |
ORPHA:87 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Mixed hearing impairment, Posteriorly rotate... |
ORPHA:97360 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Aganglionic megacolon, Hypoplasia of t... |
OMIM:250250 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Abnormal pinna morphology, Kyphoscoliosis, Short neck, Postaxial polydactyly, Hemiver... |
OMIM:302960 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Delayed... |
OMIM:157800 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Flexion contracture of finger, Optic nerve hypoplasia, Decre... |
ORPHA:101085 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Tapered finger, Short thum... |
OMIM:613458 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
| Cockayne Syndrome A |
|
Hepatomegaly, Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, De... |
OMIM:216400 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Splenomegaly, Abnormal pelvic girdle bone morpho... |
ORPHA:1133 |
| Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Cryptorchidism, Protruding ear, Abnormal shoulder morphology, Joint hyp... |
ORPHA:2115 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Bone ... |
ORPHA:352540 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Foot joint cont... |
ORPHA:90321 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy |
OMIM:616881 |
| Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Absent brainstem auditory responses, Sensorineural hearing impa... |
ORPHA:79330 |
| Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... |
ORPHA:401973 |
| Chops Syndrome |
|
Thickened helices, Hearing impairment, Splenomegaly, Cryptorchidism, Optic atrophy, Tracheomalaci... |
OMIM:616368 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Optic disc coloboma, Hemivertebrae, O... |
OMIM:304050 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ... |
OMIM:613848 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Increased bone mineral density, Osteomalacia, Rickets of the lower limbs, Craniosynostosis, Lower... |
ORPHA:289176 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Cockayne Syndrome B |
|
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
| Dent Disease 1 |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag... |
OMIM:609136 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Bilia... |
OMIM:306955 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... |
ORPHA:206443 |
| Sclerosteosis 1 |
|
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, 2-3 finger syndactyly, Irregular menst... |
OMIM:269500 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Gapo Syndrome |
|
Dysmenorrhea, Hearing impairment, Micrognathia, Delayed skeletal maturation, Optic atrophy, Abnor... |
ORPHA:2067 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo... |
ORPHA:1827 |
| Thakker-Donnai Syndrome |
|
Posteriorly rotated ears, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Macrotia |
ORPHA:1780 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hyperplasia, Contracture of ... |
ORPHA:83617 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Wormian bones, Hearing impairment, M... |
ORPHA:444077 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus, Erectile dysfunction |
ORPHA:206448 |
| Cranioectodermal Dysplasia 1 |
|
Protruding ear, Hepatic fibrosis, Joint laxity, Hepatomegaly, Rhizomelia, Malformation of the hep... |
OMIM:218330 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis |
ORPHA:3240 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged neonatal jaundice |
ORPHA:529799 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Microtia, third degree, Monorchism, Camptodactyly of finger... |
ORPHA:2753 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Conductive hearing impairment, Cl... |
OMIM:300373 |
| Intellectual Disability, Buenos-Aires Type |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Clinodactyly of the 5th fin... |
ORPHA:3079 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Immotile sperm |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h... |
OMIM:236680 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| 47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia, Low-set ears... |
ORPHA:8 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Conductive hearing impairm... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Charge Syndrome |
|
Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the ulna, Hypogonadotropic hypogonad... |
OMIM:214800 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul... |
ORPHA:51608 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Cryptorchidism, Genu valgum, Abn... |
ORPHA:289 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Short neck, Micrognathia, Coxa valga, Hip dislocation, Fib... |
OMIM:619297 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryp... |
ORPHA:1772 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... |
OMIM:227650 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Underdeveloped tragus, Partial duplication of thumb phalanx, Senso... |
OMIM:164210 |
| Elsahy-Waters Syndrome |
|
Posteriorly rotated ears, Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutan... |
OMIM:211380 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognathia, Short neck, Cryptorchid... |
ORPHA:3404 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Limited elbow movement, Short neck, Micrognathia, Proximal placement of thu... |
OMIM:261540 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Conductive hearing impairment, Absent frontal sinuses, Male infertility |
OMIM:244400 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Oligozoospermia, ... |
ORPHA:85450 |
| Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Clubbing of fingers, Cirrh... |
OMIM:219700 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Noonan Syndrome 1 |
|
Male infertility, Kyphoscoliosis, Micrognathia, Short neck, Cryptorchidism, Hearing impairment, S... |
OMIM:163950 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Delayed skeletal maturation, Irregular menstruation, ... |
ORPHA:90793 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
| Cystinosis, Nephropathic |
|
Male infertility, Hepatomegaly, Splenomegaly, Delayed skeletal maturation, Metaphyseal widening, ... |
OMIM:219800 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
