Hypochondroplasia

[MIM*146000] A skeletal dysplasia characterized by dwarfism with features similar to but much milder than achondroplasia; the cranium and facies are normal; features not clinically evident until mid-childhood. Autosomal dominant inheritance, caused in some cases by mutation in the fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4p. [hypo- + G. chondros, cartilage, + plasis, a molding]