| Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| 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 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
| Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| 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, Micrognathia, Radial bowin... |
OMIM:249700 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Intrauterine growth retardation, Short stature |
ORPHA:436144 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| 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 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
| 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 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... |
OMIM:613073 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
| 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 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| 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 |
| 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 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Short metacarpal, Short hallux, Short distal phalanx of finger, Hallux varus, S... |
OMIM:112450 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Eng-Strom Syndrome |
|
Short stature, Ventricular septal defect, Abnormal cardiac septum morphology, Intrauterine growth... |
ORPHA:1937 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| 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 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... |
OMIM:156500 |
| Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
| Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing |
OMIM:166740 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
| Patella Aplasia-Hypoplasia |
|
Patellar hypoplasia, Patellar aplasia |
OMIM:168860 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... |
OMIM:607143 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Intrauterine growth retardation |
OMIM:619441 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... |
ORPHA:1505 |
| Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... |
OMIM:600785 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
| 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 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
| Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Forearm undergr... |
ORPHA:314795 |
| Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
| Weismann-Netter Syndrome |
|
Lateral femoral bowing, Squared iliac bones, Anterior tibial bowing, Fibular bowing |
OMIM:112350 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad foot, Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral... |
ORPHA:2502 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short metacarpal, Hypoplast... |
OMIM:608940 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
| Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
| Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia |
OMIM:164900 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
| Caffey Disease |
|
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing |
OMIM:114000 |
| Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
| Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... |
ORPHA:2751 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po... |
OMIM:603671 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... |
OMIM:617925 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... |
OMIM:263520 |
| Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o... |
ORPHA:3035 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the mandible, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing,... |
ORPHA:85165 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
| Kyphomelic Dysplasia |
|
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, F... |
OMIM:211350 |
| Saul-Wilson Syndrome |
|
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:618150 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... |
ORPHA:958 |
| Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... |
OMIM:164745 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Small hand, Narro... |
OMIM:228520 |
| Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
| Occipital Horn Syndrome |
|
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
| Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... |
ORPHA:3144 |
| Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Micrognathia, Ca... |
OMIM:600383 |
| Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... |
OMIM:200980 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... |
ORPHA:140 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
| Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus |
ORPHA:1827 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
| Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... |
OMIM:236680 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... |
OMIM:114290 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... |
OMIM:304120 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Cranioectodermal Dysplasia 1 |
|
Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt... |
OMIM:218330 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Flexion contracture of toe, Micrognathia, Camptodactyly, Clinodactyly... |
OMIM:300373 |
| Charge Syndrome |
|
Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... |
OMIM:214800 |
