Upington Disease |
|
Flattened femoral head, Broad femoral neck, Multiple enchondromatosis, Arthralgia of the hip |
OMIM:191520 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
Genochondromatosis Type 1 |
|
Multiple enchondromatosis, Abnormality of the knee |
ORPHA:85197 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Short femur, Hypop... |
OMIM:619598 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... |
OMIM:147891 |
Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... |
OMIM:613073 |
Metachondromatosis |
|
Multiple enchondromatosis, Bowing of the long bones |
OMIM:156250 |
Enchondromatosis, Multiple, Ollier Type |
|
Multiple enchondromatosis, Abnormal long bone morphology |
OMIM:166000 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Dislocated radial head, Talipes equinoval... |
OMIM:605274 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... |
OMIM:609324 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Abnormality of the knee, Abnormality of the proximal tibia... |
ORPHA:2768 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... |
OMIM:617719 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Corner fracture of metaphysi... |
OMIM:184255 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Epiphyseal dysplasia, Ir... |
OMIM:609325 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femoral epiphysis, Epiphyse... |
OMIM:226900 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... |
ORPHA:440354 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Micrognathia, Clinoda... |
OMIM:201170 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Coxa vara, Rhizomelia, Flared iliac wing, Proximal femoral metaph... |
OMIM:183849 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... |
ORPHA:2632 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... |
OMIM:156500 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Micrognathi... |
ORPHA:1988 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... |
OMIM:228900 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal fingertip morp... |
ORPHA:79106 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... |
OMIM:132400 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Micrognathia, Camptodactyly, Short femur, Metatarsus adductus, Increased... |
ORPHA:56304 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Short femur, Congenital hip ... |
ORPHA:93333 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Del... |
ORPHA:750 |
Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Hypoplastic ilia, Micromelia, Short femur, Femoral bowing, Abnormal sacro... |
ORPHA:1860 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Foot polydactyly, Micrognathia, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Foot oligodactyly, Short femur |
OMIM:601357 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Short femur, F... |
OMIM:211350 |
Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Short 1st metacarpal, Hypoplasia of th... |
OMIM:147750 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Osteosclerosis With Ichthyosis And Fractures |
|
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing |
OMIM:166740 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... |
OMIM:607143 |
Paget Disease Of Bone 2, Early-Onset |
|
Femoral bowing, Short femur, Osteosclerosis of the ulna, Bowing of the long bones, Fractures of t... |
OMIM:602080 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
Achondroplasia |
|
Genu varum, Short femoral neck, Rhizomelia, Short ribs, Radial bowing, Ulnar bowing, Short femur,... |
OMIM:100800 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... |
ORPHA:1505 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Bulging epiphyses, Rickets of the lower limbs,... |
OMIM:600785 |
Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Short femoral neck, Short long bone, Abnormal foot morpholog... |
ORPHA:94068 |
Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Rhizomelia, Short long bone, Micrognat... |
ORPHA:1190 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Atelosteogenesis Type Iii |
|
Short tibia, Short tubular bones of the hand, Patellar dislocation, Vertebral hypoplasia, Abnorma... |
ORPHA:56305 |
Weismann-Netter Syndrome |
|
Lateral femoral bowing, Squared iliac bones, Anterior tibial bowing, Fibular bowing |
OMIM:112350 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Micromelia, Oligo... |
OMIM:251230 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral... |
ORPHA:2502 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Fractured radius, Short ribs, Micrognathia, Short femur, Adducted thumb, Flared metaphysis, Limb ... |
OMIM:616897 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Micrognathia, Camptodactyly, Hypop... |
OMIM:601559 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... |
OMIM:609441 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... |
OMIM:119800 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast... |
OMIM:608940 |
Ollier Disease |
|
Abnormal metaphysis morphology, Multiple enchondromatosis, Abnormal cartilage morphology, Micromelia |
ORPHA:296 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... |
OMIM:608728 |
Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Forearm undergr... |
ORPHA:314795 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Short long bone, Short ribs, Absent tibia, Short digit, Talipes equinovaru... |
OMIM:613091 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia |
OMIM:164900 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Central Y... |
OMIM:277170 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Micrognathia, Metatarsal synostosis, Abnormal forearm bone morphology, Flat... |
ORPHA:93307 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... |
OMIM:609945 |
Osteogenesis Imperfecta, Type X |
|
Genu valgum, Rhizomelia, Micrognathia, Micromelia, Short femur, Fibular bowing, Bowing of the lon... |
OMIM:613848 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Asymmetric radial dysplasia, R... |
OMIM:171480 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short long bone, Short ribs, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
Lethal Kniest-Like Dysplasia |
|
Abnormality of the ischium, Wide anterior fontanel, Hypoplastic ilia, Short ribs, Mesomelic/rhizo... |
ORPHA:2347 |
Caffey Disease |
|
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing |
OMIM:114000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
Kniest Dysplasia |
|
Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Rhizomelia,... |
OMIM:156550 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Wide anterior fontanel, Short long bone, Short ribs, Microgn... |
OMIM:617925 |
Hyperparathyroidism, Transient Neonatal |
|
Short long bone, Short ribs, Femoral bowing, Short femur, Fractured rib, Metaphyseal spurs |
OMIM:618188 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Saul-Wilson Syndrome |
|
Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasi... |
OMIM:618150 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... |
OMIM:223800 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the mandible, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing,... |
ORPHA:85165 |
Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Genu valgum, Abnormality of the knee, F... |
ORPHA:321 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short long bone, Short ribs,... |
OMIM:263520 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po... |
OMIM:603671 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o... |
ORPHA:3035 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Preaxial foot p... |
ORPHA:2751 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Genu valgum, Short femur |
OMIM:617798 |
Catel-Manzke Syndrome |
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Short toe, Genu valgum, Short metacarpal, Micrognathia, Camptodactyly, Clinodactyly of the 5th fi... |
OMIM:616145 |
Pelvis-Shoulder Dysplasia |
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Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Mesomelic/rhiz... |
ORPHA:2839 |
Fibrochondrogenesis 1 |
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Dumbbell-shaped long bone, Wide anterior fontanel, Short foot, Short long bone, Small hand, Short... |
OMIM:228520 |
Czech Dysplasia |
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Short toe, Short femoral neck, Coxa vara, Short metacarpal, Flat capital femoral epiphysis, Narro... |
OMIM:609162 |
Spondyloepiphyseal Dysplasia Tarda |
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Finger swelling, Coxa vara, Short femoral neck, Flattened femoral head, Enlarged epiphyses of the... |
ORPHA:93284 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Micrognathia, Hip dislocation, Short femur, Limb undergrowth, Bifid first metacarpal, Delayed epi... |
OMIM:210710 |
Larsen-Like Syndrome, Lethal Type |
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Abnormal cartilage matrix |
OMIM:245650 |
Acro-Renal-Mandibular Syndrome |
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Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... |
ORPHA:958 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Micrognathia, Clinodactyly of the 5th finger, Pes planus, Short femur, Talipes, Talipes equinovar... |
OMIM:300990 |
Omodysplasia 2 |
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Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... |
OMIM:164745 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Short distal phalanx of finger... |
ORPHA:86822 |
8Q24.3 Microdeletion Syndrome |
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Short 5th finger, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly of the 5th ... |
ORPHA:508488 |
Occipital Horn Syndrome |
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Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
Phocomelia, Schinzel Type |
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Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Micrognathia... |
ORPHA:2879 |
Schneckenbecken Dysplasia |
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Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Micromelia, Hypop... |
ORPHA:3144 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Polydactyly, Short humerus, Short femur |
ORPHA:17 |
Campomelic Dysplasia |
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11 pairs of ribs, Short long bone, Hypoplastic inferior ilia, Micrognathia, Hip dislocation, Femo... |
ORPHA:140 |
Seckel Syndrome 1 |
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11 pairs of ribs, Micrognathia, Ivory epiphyses, Hip dislocation, Abnormal finger flexion crease,... |
OMIM:210600 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Mesomelia-Synostoses Syndrome |
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Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Carpometacarpal ... |
OMIM:600383 |
Acrorenal-Mandibular Syndrome |
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Toe syndactyly, Foot polydactyly, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Hip d... |
OMIM:200980 |
Cousin Syndrome |
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Hypoplastic iliac wing, 2-3 toe syndactyly, Hypoplastic pubic bone, Rhizomelia, Humeroradial syno... |
OMIM:260660 |
Thrombocytopenia-Absent Radius Syndrome |
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Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus |
ORPHA:1827 |
Wiedemann-Rautenstrauch Syndrome |
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Genu varum, Hypoplastic ilia, Slender long bone, Micrognathia, Clinodactyly, Short femur, Long fo... |
OMIM:264090 |
Campomelic Dysplasia |
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Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... |
OMIM:114290 |
Hydrolethalus Syndrome 1 |
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Upper limb undergrowth, Preaxial hand polydactyly, Micrognathia, Proximal tibial hypoplasia, Dupl... |
OMIM:236680 |
Wiedemann-Rautenstrauch Syndrome |
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Camptodactyly of finger, 2-3 toe syndactyly, Hypoplastic ilia, Hip dysplasia, Short femur, Hypopl... |
ORPHA:3455 |
Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... |
OMIM:304120 |
Femoral-Facial Syndrome |
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Hypoplastic acetabulae, Preaxial hand polydactyly, Humeroradial synostosis, Toe syndactyly, Aplas... |
OMIM:134780 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Aplasia/hypoplasia of the femur, Missing ribs, Clinodactyly of the 5th finger,... |
ORPHA:2769 |
Orofaciodigital Syndrome Type 4 |
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Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Cranioectodermal Dysplasia 1 |
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Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt... |
OMIM:218330 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Flexion contracture of toe, Micrognathia, Talipes equinovarus, Campto... |
OMIM:300373 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Aplastic clavicle, Abnormal finger morphology, Large iliac wing, Aplasia/hypoplasia of the femur,... |
ORPHA:2636 |
Kinsship Syndrome |
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Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Dislocated radial head, Mesomelia, Fibula... |
OMIM:619297 |
Charge Syndrome |
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Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... |
OMIM:214800 |
Ulbright-Hodes Syndrome |
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Short sternum, Humeroradial synostosis, Short metacarpal, Hypoplasia of the radius, Micrognathia,... |
ORPHA:3404 |
Encephalocraniocutaneous Lipomatosis |
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Abnormal cartilage morphology |
ORPHA:2396 |