Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Faciocardiomelic Dysplasia, Lethal |
|
Small for gestational age, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger... |
OMIM:227270 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... |
OMIM:601560 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Biconcave vertebra... |
OMIM:250215 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... |
ORPHA:1972 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Failure to thrive, Micrognathia, Microcephaly, Short humerus, Scol... |
OMIM:222765 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... |
ORPHA:52056 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... |
OMIM:304950 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Microcephaly, Short humerus, Micromelia, Abnormality of the elbow... |
ORPHA:2491 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Microcephaly, Hypoplasia of the ulna, Aplasia/Hypoplasia ... |
OMIM:612447 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... |
OMIM:171480 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... |
OMIM:249600 |
Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e... |
OMIM:164745 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... |
ORPHA:75508 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... |
OMIM:609324 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower lim... |
OMIM:608571 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... |
ORPHA:2249 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Decreased body weight, Malar flattening, Micrognathia, Hypoplasia of the ulna, Clinodactyly |
ORPHA:357175 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Scoliosis, Genu varum, Short lower limbs, Carious teeth, Hyperlordosis, Ab... |
ORPHA:2501 |
Autosomal Dominant Omodysplasia |
|
Malar flattening, Micrognathia, Short 1st metacarpal, Short humerus, Rhizomelia, Short palm, Pate... |
ORPHA:93328 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... |
OMIM:184255 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... |
OMIM:142900 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Scoliosis, Genu valgum, Cubitus valgus, Short f... |
ORPHA:314795 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Decreased body weight, Malar flattening, Micrognathia, Hypoplasia of the ulna, Clinodactyly |
OMIM:615162 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... |
ORPHA:950 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Scoliosis, Short femoral neck, Biconcave vertebral bo... |
OMIM:610319 |
Mietens Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplasia of the radius,... |
ORPHA:2557 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Talipes equinovarus, Malar flattening, Micrognathia, Short humerus, Delay... |
OMIM:602471 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radiu... |
OMIM:607143 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... |
ORPHA:1988 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hy... |
ORPHA:2256 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Retrognathia, Micrognathia, P... |
ORPHA:2756 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Micrognathia, Mesomelia, Syndactyly |
OMIM:228940 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Micrognathia, Femoral bowing, Sho... |
OMIM:211350 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Shortening of all distal phalanges of the fingers, Micrognathia, Short 1st... |
OMIM:619135 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Congenital hip dislocation,... |
ORPHA:2616 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... |
OMIM:226900 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Patellar dislocation, Hand clenching, Elbow dislocation, Talipes equi... |
ORPHA:56305 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
Cenani-Lenz Syndrome |
|
Finger syndactyly, Malar flattening, Hypoplasia of the radius, Micromelia, Synostosis of carpal b... |
ORPHA:3258 |
Hypochondroplasia |
|
Abnormality of femur morphology, Short toe, Macrocephaly, Micromelia, Brachydactyly, Genu varum, ... |
ORPHA:429 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... |
OMIM:609052 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Dysplasia of the femoral head, Short femur, Abnormally ossified v... |
ORPHA:94068 |
Metaphyseal Anadysplasia |
|
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Macrocephaly, Short femur, Hypoplastic ilia, Congenital hip dislocation... |
ORPHA:93333 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Malar ... |
OMIM:602613 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Hy... |
OMIM:186500 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Microcephaly, Lower limb undergrowth |
OMIM:218650 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced ossification of carpal bon... |
OMIM:618363 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Postnatal growth... |
OMIM:232700 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Kyphosis, Failure to th... |
ORPHA:420794 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbell-shaped fem... |
ORPHA:56304 |
Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Macrocephaly, Abnormal hip bone morphology, Broad distal phalanx ... |
ORPHA:93430 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... |
OMIM:183849 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... |
OMIM:601668 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Single transve... |
OMIM:201170 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hemivertebrae,... |
ORPHA:958 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Mandibular prognathia, Micromelia, Nonopposable triphalangeal thumb |
ORPHA:2252 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... |
OMIM:602418 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Aase-Smith Syndrome |
|
Talipes equinovarus, Slender finger, Abnormal hip bone morphology, Camptodactyly of finger, Scoli... |
ORPHA:916 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Postaxial Acrofacial Dysostosis |
|
Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of ... |
ORPHA:246 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Malar ... |
ORPHA:1788 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Scoliosis, Short ... |
OMIM:271530 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Abnormality of the hand, Mic... |
OMIM:251230 |
Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Fragmented epiphyses, Epiphyseal dysplasia, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Short stature, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepat... |
OMIM:614480 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... |
OMIM:614900 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Retrognathia, Camptodactyly of finge... |
ORPHA:2631 |
Pallister W Syndrome |
|
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... |
OMIM:311450 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Codas Syndrome |
|
Metaphyseal dysplasia, Coronal cleft vertebrae, Delayed ossification of carpal bones, Congenital ... |
OMIM:600373 |
Thanatophoric Dysplasia Type 1 |
|
Kyphosis, Macrocephaly, Short femur, Femoral bowing, Hypoplastic ilia, Platyspondyly, Micromelia,... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... |
OMIM:608940 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Flattened femoral head, Coxa vara, Hump-shaped mound of bone in central and posterior portions of... |
ORPHA:99642 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Abnormal vertebral morphology, Hand polydactyly, Proximal placement of thumb, Abse... |
OMIM:314390 |
Coxopodopatellar Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1509 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Ul... |
OMIM:164900 |
W Syndrome |
|
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Cubitus valgus, Clin... |
ORPHA:2804 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Hypoplasia of the ulna, Aplasia of th... |
ORPHA:1352 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... |
OMIM:135750 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Failure to thrive, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:309350 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar creases, Scoliosis, ... |
ORPHA:968 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... |
OMIM:613091 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... |
ORPHA:1837 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent teeth,... |
OMIM:112350 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Macrocephaly, Abnormal morphology of ulna, Abnormality of the hum... |
ORPHA:1275 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Short femur, Adducted thumb, Micrognathia, Flared metaphysis, Short r... |
OMIM:616897 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, Platyspondyly, Micromelia, 11 pairs of ribs, Long foot, Single transverse palmar ... |
OMIM:210710 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... |
OMIM:142669 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... |
OMIM:132400 |
Acromesomelic Dysplasia 1 |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... |
OMIM:602875 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice |
ORPHA:79238 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Micrognath... |
OMIM:108721 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive, Macrocephaly, Relative macrocephaly, Short humerus, Lateral femoral ... |
OMIM:239000 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Broad femoral neck, Short femoral neck, Genu varum, I... |
OMIM:609325 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Postaxial Acrofacial Dysostosis |
|
Malar flattening, Hypoplasia of the radius, Micrognathia, Supernumerary vertebrae, Congenital hip... |
OMIM:263750 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies, ... |
ORPHA:2370 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Distal Arthrogryposis Type 1 |
|
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... |
ORPHA:1146 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Foot oligodactyly, Amelia, Short femur |
OMIM:601357 |
Microphthalmia With Limb Anomalies |
|
Abnormality of the upper limb, Sandal gap, Hypoplasia of the maxilla, Bowing of the long bones, S... |
ORPHA:1106 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga |
OMIM:271620 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Double-layered patel... |
ORPHA:166011 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... |
OMIM:613073 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Microcephaly, Scoliosis, Radioulnar synostosis, ... |
ORPHA:2319 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Brachydactyly, Scoliosis, Hypoplas... |
ORPHA:1858 |
Distal Trisomy 5Q |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Microcephaly, Brachydactyly, Carious teeth,... |
ORPHA:96097 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Malar flattening, Bifid humer... |
OMIM:256050 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hand pol... |
OMIM:200980 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Short humeru... |
OMIM:607323 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Vertebral wedging, Short distal phalanx of... |
ORPHA:93314 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal ossification invo... |
ORPHA:2114 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Broad ... |
OMIM:271650 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Failure... |
ORPHA:93359 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Hypoplasia of the capital femoral epiphysis, Delayed eruption of teeth, Hypoplasia of the ulna, G... |
OMIM:143095 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... |
ORPHA:959 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Carious teeth, Single transverse palmar crease, Contra... |
OMIM:601559 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Rhizomelic arm... |
OMIM:223800 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Aplasia of the 1st metacarp... |
OMIM:600123 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Macrocephaly, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the dis... |
OMIM:268310 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Microcephaly, B... |
OMIM:617604 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature |
OMIM:618160 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Vertebral wedging, Flat capital femoral ep... |
ORPHA:1159 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Short femur, Femoral bowing, Fractures of the long bones... |
OMIM:602080 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Van Den Ende-Gupta Syndrome |
|
Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Hypoplas... |
OMIM:600920 |
Ophthalmomandibulomelic Dysplasia |
|
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... |
ORPHA:2741 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... |
OMIM:113470 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Dysostosis Multiplex, Ain-Naz Type |
|
Hemivertebrae, Wide humerus, Scoliosis, Glenoid fossa hypoplasia, Elongated femoral neck, Hypopla... |
OMIM:619345 |
Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Failure to thrive, Clinodactyly of... |
ORPHA:52 |
Omodysplasia 1 |
|
Malar flattening, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Short... |
OMIM:258315 |
Slc35A2-Cdg |
|
Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the extremities, Camptoda... |
ORPHA:356961 |
Heart-Hand Syndrome Type 2 |
|
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Hemiatrophy, ... |
ORPHA:1350 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Abnormally ossified vertebrae, Apla... |
ORPHA:1263 |
Anauxetic Dysplasia 2 |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Relative macrocephaly, Hypoplasia of th... |
OMIM:617396 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Hypoplastic distal humeri, Micrognathia, Micromelia, Abnormal mo... |
ORPHA:93329 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Micrognathia, Microcephaly, Abnormality of the humerus,... |
ORPHA:3098 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cholestasis, Jaundice |
ORPHA:172 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Microcephaly, Camptodactyly, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Thoracomelic Dysplasia |
|
Short ribs, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow... |
ORPHA:1803 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Platyspondyly, Micromelia, Synostosis of carpal bones, Upper limb undergrowth, Broad p... |
ORPHA:93351 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:619868 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Macrocephaly, Ankle clonus, Scoliosis, Hypoplasia of the ulna, Large for gestational age |
OMIM:615398 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Small thenar eminence, Short thumb, Distally placed thumb |
OMIM:179270 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... |
OMIM:184252 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Femoral-Facial Syndrome |
|
Short fifth metatarsal, Hypoplastic acetabulae, Talipes equinovarus, Short fourth metatarsal, Mic... |
OMIM:134780 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Aplasia of the ulna, Short clavicles, Aplasia of the 3rd finger, H... |
OMIM:181450 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Platyspondyly, Abnormality of the ankles, Abnormal femoral head morphology, H... |
ORPHA:239 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Micromelia, Delaye... |
ORPHA:166272 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... |
OMIM:208500 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... |
OMIM:251450 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... |
ORPHA:79301 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Splenomegaly, Elevated circulating aspartate aminotransferase concen... |
OMIM:620010 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Eruption failure, Persistence of primary teeth, Del... |
OMIM:600002 |
Seckel Syndrome 1 |
|
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th ... |
OMIM:210600 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... |
ORPHA:83468 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Baller-Gerold Syndrome |
|
Carpal synostosis, Hypoplasia of the radius, Micrognathia, Carpal bone aplasia, Short humerus, Sc... |
OMIM:218600 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... |
OMIM:618019 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Adducted thumb, Micrognathia, Overla... |
ORPHA:1147 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Decreased liver function, Intrauterine growth retardation, Elevated hepatic tr... |
OMIM:617093 |
Rothmund-Thomson Syndrome |
|
Supernumerary tooth, Palmar hyperkeratosis, Small for gestational age, Broad ulna, Plantar hyperk... |
ORPHA:2909 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Immunodeficiency 54 |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Short stature, Po... |
OMIM:609981 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth |
OMIM:236640 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Micrognathia, Abnormal form of the vertebral bodies, Limb underg... |
ORPHA:3429 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Lumbar hyperlordosis, Abnormal iliac wing morphology, Abnorm... |
ORPHA:1427 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Vertebral segmentation defect, Hypoplasia of the radius, Microcephaly, Abnormality of the humerus... |
ORPHA:3186 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Steinfeld Syndrome |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Missing ribs, Abnormal vertebral mo... |
OMIM:184705 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Cone-shaped epiphysis, Platyspondyly, ... |
ORPHA:457395 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, A... |
ORPHA:858 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Narrow greater sciatic notch, Short ribs, Scoliosis, Abnor... |
ORPHA:168549 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, M... |
OMIM:117650 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Brachydactyly, Micromelia, Truncal obesity, Ulnar deviation of finger, A... |
ORPHA:2928 |
Orofaciodigital Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Complete duplication of hallux phalanx, Finge... |
ORPHA:2751 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Growt... |
OMIM:615234 |
Occipital Horn Syndrome |
|
Kyphosis, Short clavicles, Coxa valga, Short humerus, Platyspondyly, Limited elbow extension, Gen... |
OMIM:304150 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, ... |
ORPHA:2496 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... |
ORPHA:3404 |
Jeune Syndrome |
|
Cone-shaped epiphysis, Micromelia, Brachydactyly, Postaxial hand polydactyly, Postaxial foot poly... |
ORPHA:474 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Lumbar hyperlordosis, Talipes equinovarus, Aplasia/Hypoplasia of the clav... |
ORPHA:2839 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... |
OMIM:618963 |
Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Trismus, Talipes equ... |
OMIM:154400 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Nager Syndrome |
|
Hypoplasia of the radius, Micrognathia, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of t... |
ORPHA:245 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Short distal phalan... |
OMIM:210720 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short r... |
OMIM:617895 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Platyspondyly, Micromelia,... |
ORPHA:85166 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Brachydactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Short metacarpal |
ORPHA:508542 |
Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Short toe, Short ribs, Short humerus, Brachydactyly, Flattened ep... |
OMIM:218330 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... |
OMIM:601847 |
Sc phocomelia syndrome |
|
Aplasia of the ulna, Micrognathia, Microcephaly, Short thumb, Phocomelia, Clinodactyly, Knee flex... |
OMIM:269000 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... |
ORPHA:3035 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Retrognathia, Hypoplastic scapulae,... |
OMIM:618022 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Retrognathia, Camptodactyly of 2nd-5th fin... |
OMIM:206920 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Mandibular progn... |
OMIM:619636 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Macrocephaly, Slender long bone |
ORPHA:1506 |
Microgastria-Limb Reduction Defects Association |
|
Failure to thrive, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Hypoplasia of the u... |
OMIM:156810 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Slender build, Short ribs, Metaphyseal widening, Scoliosis, Hypopl... |
OMIM:187760 |
Cleidocranial Dysplasia |
|
Macrocephaly, Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Carious teeth, G... |
ORPHA:1452 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand poly... |
OMIM:165590 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Satoyoshi Syndrome |
|
Abnormality of femur morphology, Abnormal hip bone morphology, Microcephaly, Abnormality of the h... |
ORPHA:3130 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Hypoplasia of the radius, Microcephaly, Absent scaphoid, Aplasia of the 1st metacar... |
OMIM:617247 |
Codas Syndrome |
|
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Sc... |
ORPHA:1458 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Micrognathia, Short ti... |
OMIM:617925 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic trans... |
OMIM:613812 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Forearm undergrowth, Bowed forearm bones, Absent radius, Absent thumb |
OMIM:602200 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
Czech Dysplasia |
|
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Platyspondyl... |
OMIM:609162 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Hypoplasia of the radius, Small thenar eminence, Proximal placement of thumb, Short... |
OMIM:613390 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short long bone, Short humerus, Brachydactyly, Bowed humerus, Trident pelvis |
OMIM:619479 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... |
OMIM:260660 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Biconcave vertebral bodies, Arthralgia of the hip, ... |
ORPHA:93284 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Coronal cleft vertebrae, Malar flatten... |
OMIM:156550 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormality of femur morphology, Hip dislocation, Micromelia |
ORPHA:1508 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Microcephaly, Short thumb |
OMIM:613951 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... |
ORPHA:321 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Microcephaly, Genu valgum, Macrocephaly, Short femur |
OMIM:617798 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... |
ORPHA:140 |
Fanconi Anemia |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, A... |
ORPHA:84 |
Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Macrocephaly, Malar flattening, Short ribs, Increased fibular diame... |
ORPHA:3144 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Micrognathia, Camptodactyly of finge... |
ORPHA:1323 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Macrocephaly, Talipes equinovarus, Malar flattening, Short femur, Small for ge... |
OMIM:264090 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Brachydactyly, Advanced eruption of teeth, Scoliosis... |
ORPHA:1133 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Harrod Syndrome |
|
Dental malocclusion, Kyphosis, Failure to thrive, Arachnodactyly, Microcephaly, Scoliosis, Abnorm... |
ORPHA:2115 |
Tarp Syndrome |
|
Failure to thrive, Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the r... |
OMIM:311900 |
Ivic Syndrome |
|
Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Scoliosis, Radio... |
ORPHA:2307 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Femoral bowing, Microcephaly, Fibular bowing, Aplasi... |
ORPHA:85165 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... |
ORPHA:1328 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Short femur, Microcephaly, Short humerus, Polydactyly |
ORPHA:17 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cachexia, Growth delay, Anemia, Bone-marrow foam cel... |
ORPHA:75233 |
Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Malar flattening, Narr... |
OMIM:228520 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Micrognathia, Bowing of the long bones, Abnormal pelvic girdle ... |
ORPHA:2097 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Macrocephaly, Microretrognathia, Abnormal morphology of ulna, Split foot, Abnormality of the ankl... |
ORPHA:1307 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Radio-Renal Syndrome |
|
Retrognathia, Micrognathia, Hypoplasia of the radius, Micromelia, Brachydactyly, Abnormal form of... |
ORPHA:3015 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Jaundice... |
OMIM:211600 |
Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Flared iliac wing, Partial duplication of the distal phalanx of t... |
ORPHA:949 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polyda... |
OMIM:263520 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Ulnar-Mammary Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... |
ORPHA:3138 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Al-Gazali Syndrome |
|
Failure to thrive, Bilateral talipes equinovarus, Proximal radio-ulnar synostosis, Micrognathia, ... |
OMIM:609465 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Microcephaly... |
OMIM:609053 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Malar ... |
OMIM:231070 |
Holt-Oram Syndrome |
|
Kyphosis, Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Scoliosis, Radioulnar... |
ORPHA:392 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Fanconi Anemia, Complementation Group W |
|
Hypoplasia of the radius, Microcephaly, Absent thumb |
OMIM:617784 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, In... |
OMIM:235555 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Tibial bowing, Small for gestational age, Micrognathia, Talipes equinovalgus, Congenital bilatera... |
ORPHA:453510 |
Roberts Syndrome |
|
Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis, Sandal gap, Compl... |
ORPHA:3103 |
Sponastrime Dysplasia |
|
Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia,... |
ORPHA:93357 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Proximal femoral metaphysea... |
OMIM:113500 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decre... |
OMIM:212140 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Broad distal phal... |
OMIM:300990 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly |
OMIM:276822 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:600081 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Clinodactyly of the 5th finger, Malar flattening, Failure of eruption of permanent teet... |
ORPHA:2769 |
Achondrogenesis, Type Ia |
|
Bowing of the legs, Short clavicles, Severe limb shortening, Talipes equinovarus, Hypoplastic sac... |
OMIM:200600 |
Occipital Horn Syndrome |
|
Platyspondyly, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality ... |
ORPHA:198 |
Transaldolase Deficiency |
|
Failure to thrive, Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cir... |
OMIM:606003 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Small for gestational age, Platyspondyly, Angulated humerus, Mesomelia, Rhizom... |
OMIM:616229 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, S... |
OMIM:224120 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... |
OMIM:307800 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Wiedemann-Rautenstrauch Syndrome |
|
Slender build, Failure to thrive, Kyphoscoliosis, 2-3 toe syndactyly, Hypoplastic vertebral bodie... |
ORPHA:3455 |
Lacrimoauriculodentodigital Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the radius, Partial duplication of thumb phalanx, 2... |
OMIM:149730 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Tibial bowing, Dentinogenesis imperfecta, Micrognathia, Biconcave vertebral bodies, Sco... |
OMIM:259420 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... |
OMIM:607765 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Upper limb undergrowth,... |
ORPHA:93315 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Microcephaly, Micromelia, Short phalanx of finger, Abnormal shoulder morphology, Abnormal pelvic ... |
ORPHA:1422 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasia, Carpal synostosis, Clinodac... |
OMIM:272460 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, H... |
OMIM:278000 |
Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Clinodactyly of the 5th finger, Microcephaly, Abnormal pelvic girdle bone mo... |
ORPHA:3079 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Macrocephaly, Femoral bowing, Short 1st metacarpal, 11 pairs ... |
OMIM:114290 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pairs of ribs, Genu valgum, H... |
OMIM:271640 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Tibial bowing, Absent ossification of capital femoral epiphysis, Femoral bowing, Platyspondyly, C... |
OMIM:245160 |
Diamond-Blackfan Anemia 1 |
|
Failure to thrive, Absent thumb, Hypoplastic coccygeal vertebrae, Retrognathia, Micrognathia, Hyp... |
OMIM:105650 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Attrv30M Amyloidosis |
|
Weight loss, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... |
OMIM:266200 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Abnormal hip bone morphology, Microcephaly, Genu varum, Hypoplasia of the zygomatic bone, Carious... |
ORPHA:1110 |
Renal Dysplasia-Limb Defects Syndrome |
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Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... |
OMIM:266910 |
Klatskin Tumor |
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Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Jaundice |
ORPHA:99978 |
Otopalatodigital Syndrome Type 2 |
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Carpal synostosis, Failure to thrive, Malar flattening, Flared iliac wing, Preaxial polydactyly, ... |
ORPHA:90652 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... |
OMIM:600649 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
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Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Femoral retroversion, Femoral ... |
OMIM:610915 |
Acrofacial Dysostosis, Cincinnati Type |
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Flared lower limb metaphysis, Decreased body weight, Retrognathia, Micrognathia, Femoral bowing, ... |
OMIM:616462 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... |
ORPHA:860 |
Craniosynostosis With Fibular Aplasia |
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Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic fail... |
ORPHA:79303 |
Duane Retraction Syndrome |
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Talipes equinovarus, Hypoplasia of the radius, Micrognathia, Absent radius, Microcephaly, Brachyd... |
ORPHA:233 |
Familial Atrial Myxoma |
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Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... |
ORPHA:615 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
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Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia... |
ORPHA:2975 |
Alagille Syndrome 1 |
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Short distal phalanx of finger, Failure to thrive, Hemivertebrae, Hypoplasia of the ulna, Butterf... |
OMIM:118450 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, A... |
OMIM:235200 |
Camptodactyly Syndrome, Guadalajara, Type I |
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Twelfth rib hypoplasia, Absent frontal sinuses, Abnormality of dental eruption, Hallux valgus, Cu... |
OMIM:211910 |
Cartilage-Hair Hypoplasia |
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Abnormally ossified vertebrae, Micromelia, Rhizomelia, Abnormal epiphysis morphology, Bowing of t... |
ORPHA:175 |
Vacterl With Hydrocephalus |
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Retrognathia, Micrognathia, Hypoplasia of the radius, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:3412 |
Charge Syndrome |
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Absent tibia, Abnormal palmar dermatoglyphics, Malar flattening, Bilateral talipes equinovarus, M... |
OMIM:214800 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Short stature, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Fanconi Anemia, Complementation Group F |
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Failure to thrive, Absent thumb, Hypoplasia of the radius, Microcephaly, 2-3 finger syndactyly, S... |
OMIM:603467 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Tarp Syndrome |
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Hypoplasia of proximal radius, Failure to thrive, Short sternum, Talipes equinovarus, Postaxial p... |
ORPHA:2886 |
Mosaic Trisomy 16 |
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Small for gestational age, Craniofacial asymmetry, Syndactyly, Short femoral neck, Single transve... |
ORPHA:1708 |
8Q24.3 Microdeletion Syndrome |
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Congenital hip dislocation, Micromelia, Finger clinodactyly, Single transverse palmar crease, Roc... |
ORPHA:508488 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Spherocytosis, Type 5 |
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Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Erythrocytosis, Familial, 8 |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Radius, Aplasia Of, With Cleft Lip/Palate |
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Absent radius |
OMIM:179400 |
Caroli Disease |
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Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Isolated Biliary Atresia |
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Failure to thrive, Decreased liver function, Hepatomegaly, Periportal fibrosis, Severe failure to... |
ORPHA:30391 |
Kinsship Syndrome |
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Dislocated radial head, Failure to thrive, Micrognathia, Microcephaly, Scoliosis, Polydactyly, Si... |
OMIM:619297 |
Short Stature, Dauber-Argente Type |
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Decreased fibular diameter, Arachnodactyly, Microcephaly, Delayed eruption of teeth, Long fingers... |
OMIM:619489 |
Caffey Disease |
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Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones |
OMIM:114000 |
Hydrolethalus Syndrome 1 |
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Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper limb undergrowth, Postaxial ... |
OMIM:236680 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Small for gestational age, Cirrhosis, Hepatic failure... |
ORPHA:567983 |
Osteopathia Striata With Cranial Sclerosis |
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Dental malocclusion, Failure to thrive, Clinodactyly of the 5th finger, Talipes equinovarus, Para... |
OMIM:300373 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Abnormally ossified vertebrae, Abnormality of the pubic bone, Micromelia, Abnormal metaphysis mor... |
ORPHA:2636 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Hereditary Elliptocytosis |
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Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Pancreatic fi... |
OMIM:208540 |
Cornelia De Lange Syndrome 1 |
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Dislocated radial head, Clinodactyly of the 5th finger, Short sternum, 2-3 toe syndactyly, Hand o... |
OMIM:122470 |
Sickle Cell Anemia |
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Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... |
OMIM:603903 |
Trisomy 13 |
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Ectrodactyly, Kyphosis, Malar flattening, Bilateral single transverse palmar creases, Scoliosis, ... |
ORPHA:3378 |
Oncogenic Osteomalacia |
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Abnormality of femur morphology, Tibial bowing, Abnormality of fibula morphology, Abnormal foot m... |
ORPHA:352540 |
Axial Mesodermal Dysplasia Spectrum |
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Vertebral segmentation defect, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Mi... |
ORPHA:1834 |
Saethre-Chotzen Syndrome |
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Clinodactyly of the 5th finger, Absent first metatarsal, Partial duplication of the distal phalan... |
OMIM:101400 |
Gaucher Disease, Type Iiic |
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Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Anemia, Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Aplasia/Hypoplasia of the phalanges of the toes, Finger syndactyly, Split foot, Hemivertebrae, Ab... |
ORPHA:1112 |
Spherocytosis, Type 1 |
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Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Caudal Regression Syndrome |
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Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovarus, Abnormal verte... |
ORPHA:3027 |
Autosomal Recessive Hypophosphatemic Rickets |
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Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Delayed eruption of ... |
ORPHA:289176 |
Orofaciodigital Syndrome Type 4 |
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Failure to thrive, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Retrognathia, Micrognathia... |
ORPHA:2753 |
Gapo Syndrome |
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Abnormal metaphysis morphology, Micrognathia, Delayed eruption of teeth, Abnormal form of the ver... |
ORPHA:2067 |
Acromelic Frontonasal Dysplasia |
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Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia |
ORPHA:1827 |
Ellis Van Creveld Syndrome |
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Short distal phalanx of finger, Failure to thrive, Micromelia, Delayed eruption of teeth, Synosto... |
ORPHA:289 |
Cryohydrocytosis |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Lacrimoauriculodentodigital Syndrome |
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Finger syndactyly, Absent thumb, Hypoplasia of the radius, Micrognathia, Syndactyly, Duplication ... |
ORPHA:2363 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Small hand, Micrognathia, Microce... |
ORPHA:444077 |
Vater/Vacterl Association |
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Failure to thrive, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosis, Short t... |
OMIM:192350 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Isolated Epispadias |
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Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
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Hypoplasia of the radius, Clinodactyly of the 5th finger, Toe syndactyly |
ORPHA:140952 |
Aorta Coarctation |
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Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Branchiooculofacial Syndrome |
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Kyphosis, Clinodactyly of the 5th finger, Malar flattening, Cleft of chin, Micrognathia, Microcep... |
OMIM:113620 |
Williams Syndrome |
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Down-sloping shoulders, Abnormality of the ankles, Carious teeth, Radioulnar synostosis, Genu val... |
ORPHA:904 |