Spondyloepiphyseal dysplasia, Omani type (Q88342)
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Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplasia (SED) characterised by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2065919805 |
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| English | Spondyloepiphyseal dysplasia, Omani type |
Spondyloepiphyseal dysplasia, Omani type is a form of spondyloepiphyseal dysplasia (SED) characterised by short stature with final height of 110-130 cm, severe and progressive kyphoscoliosis, arthritic changes with joint dislocations (elbows, wrists, knees), rhizomelic limbs, genu valgum, cubitus valgus, brachydactyly, camptodactyly, microdontia, normal intelligence, and ventricular septal defect and deafness in isolated cases. |
