Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... |
ORPHA:93405 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Coxa valga, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dor... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... |
ORPHA:79106 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Gait disturbance, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis ... |
ORPHA:2501 |
Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... |
ORPHA:2114 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Short long b... |
ORPHA:93308 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 finger syndactyly... |
OMIM:619217 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... |
ORPHA:1802 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, F... |
ORPHA:3329 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... |
OMIM:166740 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Abnormal dental enamel mor... |
OMIM:601559 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Gnathodiaphyseal Dysplasia |
|
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... |
OMIM:166260 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
Slc35A2-Cdg |
|
Metatarsus adductus, Limb joint contracture, Talipes equinovarus, Aplasia/hypoplasia involving bo... |
ORPHA:356961 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing... |
OMIM:602111 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergrowth, Oligodac... |
OMIM:251230 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:600081 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... |
OMIM:258860 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... |
OMIM:607143 |
Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Finger syndactyly, Synostosis of joints, Short long bone, Short tibia, Toe s... |
ORPHA:1106 |
Acromesomelic Dysplasia 3 |
|
Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Omodysplasia 1 |
|
Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Limited knee ext... |
OMIM:258315 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... |
OMIM:307800 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Toe syndactyly, Short tibia, Camptodactyly |
OMIM:258865 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Craniosynostosis |
OMIM:218550 |
Hydrocephalus With Associated Malformations |
|
Abnormal foot morphology, Omphalocele, Micrognathia, Tibial bowing, Short lower limbs, Lower limb... |
OMIM:236640 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... |
OMIM:609945 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:300554 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower lim... |
ORPHA:3035 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:241530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... |
OMIM:264700 |
Femoral-Facial Syndrome |
|
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... |
ORPHA:1988 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... |
OMIM:268305 |
Occipital Horn Syndrome |
|
Keloids, Absent tibia, Rickets, Aplastic clavicle, Pes planus, Synostosis of joints, Brachydactyl... |
ORPHA:198 |
Vitamin D-Dependent Rickets, Type 2A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... |
OMIM:277440 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... |
OMIM:608940 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... |
OMIM:227270 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... |
OMIM:119800 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... |
ORPHA:3320 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ... |
OMIM:617925 |
Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... |
ORPHA:314795 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominen... |
ORPHA:96334 |
Eiken Syndrome |
|
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... |
OMIM:600002 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Increased su... |
ORPHA:289157 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Tibial bowing, Fibular bowing, Abnormally ossified vertebrae, Limb undergrowth, Epi... |
ORPHA:1427 |
Oncogenic Osteomalacia |
|
Abnormal foot morphology, Gait disturbance, Tibial bowing, Abnormality of femur morphology, Fibro... |
ORPHA:352540 |
Dent Disease 1 |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:300009 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Omphalocele, Short metatarsal, Short ribs, Broad hallux, Bulbous ti... |
OMIM:304120 |
Osteogenesis Imperfecta, Type Iii |
|
Decreased calvarial ossification, Micrognathia, Tibial bowing, Multiple prenatal fractures, Bowin... |
OMIM:259420 |
Grant Syndrome |
|
Down-sloping shoulders, Micrognathia, Tibial bowing |
OMIM:138930 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Multiple prenatal fractures, Type 1 collagen overmodification, Oste... |
OMIM:610915 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... |
ORPHA:2751 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Femoral bowing, Tibial bowing, Flexion contracture, Joint stiffness, Absent ossification of capit... |
OMIM:245160 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga |
OMIM:164900 |
Orofaciodigital Syndrome X |
|
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones |
OMIM:165590 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Tibial bowing, Lower limb asymmetry, Abnormality of the lower limb, Abnormal sacroili... |
ORPHA:289176 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... |
OMIM:263520 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... |
OMIM:108720 |
Campomelic Dysplasia |
|
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Tracheobronchomalacia, Talipes equ... |
ORPHA:140 |
Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Tr... |
OMIM:114290 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... |
ORPHA:1788 |
Fibrochondrogenesis 1 |
|
Omphalocele, Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia... |
OMIM:228520 |
Cousin Syndrome |
|
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... |
OMIM:260660 |
Kyphomelic Dysplasia |
|
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... |
OMIM:211350 |
Brachymesomelia-Renal Syndrome |
|
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius |
OMIM:113470 |
Geroderma Osteodysplasticum |
|
Tibial bowing, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Camptodactyly, Fe... |
OMIM:231070 |
Seckel Syndrome 1 |
|
Micrognathia, Talipes, Ivory epiphyses, Pes planus, Dislocated radial head, Hypoplasia of proxima... |
OMIM:210600 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hypoplastic scapulae, Congenital diaphragmatic hernia, Hypoplasia of the radius, Fi... |
ORPHA:958 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... |
OMIM:601027 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Congenital diaphragmatic hernia, Missing ribs... |
OMIM:200980 |
Schneckenbecken Dysplasia |
|
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... |
ORPHA:3144 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Decreased calvarial ossification, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypopl... |
OMIM:276820 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Omphalocele, Micrognathia, Fibular aplasia, Hypoplastic frontal sinuses, Abnor... |
ORPHA:90652 |
Phocomelia, Schinzel Type |
|
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... |
OMIM:274000 |
Boomerang Dysplasia |
|
Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Talipes equinovarus, Patellar hypoplasia, Aplasia/Hypopla... |
ORPHA:1827 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... |
OMIM:208500 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of... |
OMIM:236680 |
Cranioectodermal Dysplasia 1 |
|
Triphalangeal hallux, Rhizomelia, Osteoporosis, Broad toe, Short ribs, Fibular hypoplasia, Clinod... |
OMIM:218330 |
Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Omphalocele, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Oste... |
OMIM:300373 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... |
OMIM:211910 |
Kinsship Syndrome |
|
Micrognathia, Polydactyly, Fibular hypoplasia, Pes planus, Dislocated radial head, Osteopenia, Hi... |
OMIM:619297 |
Orofaciodigital Syndrome Type 4 |
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Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... |
ORPHA:2753 |
Charge Syndrome |
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Omphalocele, Micrognathia, Absent tibia, Bifid femur, Hand monodactyly, Absent radius, Down-slopi... |
OMIM:214800 |
Leigh Syndrome With Leukodystrophy |
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Progressive cerebellar ataxia, Dystonia |
ORPHA:255241 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
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OMIM:618243 |