Description

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. Prevalence is estimated at around 1 in 33,000. The clinical manifestations generally become apparent during childhood. Bowlegs may also be present. An association with intellectual deficit has been reported. The disorder is caused by mutations in the fibroblast growth factor receptor-3 gene (FGFR3; 4p16.3).

External Information

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