Last update 08 May 2025

Spondyloepiphyseal Dysplasia, Omani Type

Basic Info

Synonyms
CDMD, CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS, CHST3-Related Skeletal Dysplasia
+ [27]
Introduction
A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

Analysis

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