Last update 01 Nov 2024

Hypochondroplasia

Basic Info

Synonyms
HCH, HYPOCHONDROPLASIA, Hypochondrodysplasia
+ [9]
Introduction
An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia.

Analysis

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