| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Upington Disease |
|
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... |
ORPHA:3408 |
| Coxopodopatellar Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... |
ORPHA:1509 |
| 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 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga |
OMIM:613618 |
| Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... |
OMIM:142669 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl... |
OMIM:607078 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Hammertoe, Hip dysplasia, Hip dislocation, Knee dislocation |
ORPHA:370943 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... |
OMIM:226900 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Coxa valga, Arthritis, Hip dysplasia |
OMIM:615612 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Distal Arthrogryposis Type 1 |
|
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... |
ORPHA:1146 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... |
OMIM:609324 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic... |
OMIM:609052 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow... |
ORPHA:1802 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Bowing of the long bones, Metaphyseal chondrodysplasia, Metaphysea... |
ORPHA:2501 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Arthralgia of the hip, Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Irreg... |
OMIM:614135 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Obesity, Osteoarthritis |
ORPHA:2206 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Arthralgia of the hip, Avascular necrosis of the capital femoral... |
ORPHA:93308 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio... |
ORPHA:968 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... |
ORPHA:174 |
| Acromesomelic Dysplasia 2C |
|
Acromesomelia, Shortening of all middle phalanges of the fingers, Radial bowing, Elbow dislocatio... |
OMIM:201250 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Léri-Weill Dyschondrosteosis |
|
Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Bowing ... |
ORPHA:429 |
| Leri-Weill Dyschondrosteosis |
|
Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia... |
OMIM:127300 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... |
OMIM:156500 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... |
ORPHA:750 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Grant Syndrome |
|
Wormian bones, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Broad long bones, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:2631 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an... |
OMIM:605274 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... |
ORPHA:2639 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Shox-Related Short Stature |
|
Obesity, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubitus v... |
ORPHA:314795 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Carpal synostosis, Type A brachydactyly, Radial deviation of f... |
OMIM:112910 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... |
OMIM:610797 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... |
OMIM:619598 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... |
OMIM:608728 |
| 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 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... |
ORPHA:2370 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Limb undergrowth, Diaphys... |
ORPHA:1803 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation |
ORPHA:1508 |
| Fibular Hemimelia |
|
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Fibular aplasia, ... |
ORPHA:93323 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... |
ORPHA:2098 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ... |
OMIM:600785 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... |
OMIM:228900 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Short femoral neck, Flared metaphysis, Short palm, Bowing of the legs, Aplasia/Hypoplasia of meta... |
ORPHA:2502 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
| Atelosteogenesis, Type Iii |
|
Tombstone-shaped proximal phalanges, Rhizomelia, Radial bowing, Elbow dislocation, Knee dislocati... |
OMIM:108721 |
| Atelosteogenesis, Type Ii |
|
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Talipes eq... |
OMIM:256050 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Abnormal joint morphology, Flared femora... |
ORPHA:1427 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... |
ORPHA:3329 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... |
OMIM:184253 |
| Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormal joint morphology, Abnormality of the wrist, Abnormal femu... |
ORPHA:3130 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Carpal bone aplasia, Fibular aplasia, Absent ha... |
OMIM:200500 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Genu valgum, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Hypopl... |
ORPHA:239 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Failure to thrive, Bulging epiphyses, Enlargement of the wrists,... |
OMIM:600081 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, Hypoplasti... |
OMIM:156550 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ... |
OMIM:223800 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... |
OMIM:307800 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys... |
OMIM:210720 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Bowi... |
ORPHA:2097 |
| Osteogenesis Imperfecta, Type V |
|
Abnormal pelvic girdle bone morphology, Anterior radial head dislocation, Wormian bones, Limited ... |
OMIM:610967 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... |
OMIM:300106 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... |
OMIM:618022 |
| Kyphomelic Dysplasia |
|
Radial bowing, Flared metaphysis, Micromelia, Pterygium, Dumbbell-shaped humerus, Femoral bowing,... |
OMIM:211350 |
| Osteogenesis Imperfecta, Type Ii |
|
Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Wormian bones, Limb unde... |
OMIM:166210 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... |
ORPHA:3429 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs |
OMIM:114000 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Failure to thrive, Bulging epiphyses, Enlargement of the wrists,... |
OMIM:241530 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Failure to thrive, Bulging epiphy... |
OMIM:264700 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Failure to thrive, Bulging epiphy... |
OMIM:277440 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... |
OMIM:123000 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Fractures of the long bones |
OMIM:166600 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Metaphyseal cupping, Rhizomeli... |
OMIM:250220 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe... |
OMIM:300554 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Hip dislocation, Absent humerus, Elbow dislocation, Short tibia, Knee dislocation... |
ORPHA:56305 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal cupping, Rhizomelia, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... |
OMIM:608940 |
| Atelosteogenesis, Type I |
|
Rhizomelia, Club-shaped proximal femur, Radial bowing, Elbow dislocation, Knee dislocation, Short... |
OMIM:108720 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo... |
ORPHA:1106 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc... |
OMIM:601559 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calcification pro... |
OMIM:222765 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... |
ORPHA:3035 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... |
ORPHA:1422 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Tibial bowing |
ORPHA:85165 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology |
OMIM:607634 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe... |
OMIM:300009 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... |
ORPHA:1452 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Femoral bowing, Tibial bowing, Fibular hypoplasia, Bowing of th... |
ORPHA:140 |
| Mesomelia-Synostoses Syndrome |
|
Mesomelia, Tarsometatarsal synostosis, Micromelia, Progressive forearm bowing, Ulnar deviation of... |
OMIM:600383 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Talipes equinovarus, Flattened epiphysis, Dislocated radial head,... |
OMIM:143095 |
| Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... |
OMIM:224690 |
| Cartilage-Hair Hypoplasia |
|
Mesomelia, Small hand, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Fai... |
ORPHA:175 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Block vertebrae, Abnormal pelvic girdle bone morphology, Carpal synostosis,... |
OMIM:272460 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Failure to thrive, Flared metaphysis, Delay... |
OMIM:309350 |
| Cartilage-Hair Hypoplasia |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Femoral bowing, Limited elbow extens... |
OMIM:250250 |
| Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
| Osteogenesis Imperfecta, Type Viii |
|
Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Wormian bones, Femoral retrovers... |
OMIM:610915 |
| Camurati-Engelmann Disease |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormal diaphysis morp... |
ORPHA:1328 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Polyarticular arthritis, Enlargement of the wrists, Distal femoral bowing, Tibial bowing, Abnorma... |
ORPHA:289176 |
| Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology |
OMIM:600057 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ... |
OMIM:101400 |
