Figure - available from: Global Medical Genetics
This content is subject to copyright.
The pedigree of a child with achondroplasia (ACH).

The pedigree of a child with achondroplasia (ACH).

Source publication
Article
Full-text available
Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 (FGFR3) gene mutations are common causes of achondroplasia. The cu...