Hypochondroplasia

HCH; Hypochondrodysplasia

Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. It is also known as "achondroplasia tarda" and "atypical achondroplasia." Features People affected by this disorder appear normal at birth. As the infant grows, however, his/her arms and l ...