" /> Hypochondroplasia - CISMeF





Preferred Label : Hypochondroplasia;

NCIt definition : 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.;

Alternative definition : NICHD: A condition phenotypically similar to, but milder than, achondroplasia that is often caused by mutations in the FGFR3 gene.;

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30/07/2025


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