What does the name mean?
“Hypo” is a prefix meaning “below” or “less.” It follows that this dysplasia is considered a more mild or atypical form of achondroplasia.
How common is hypochondroplasia?
The incidence of hypochondroplasia is approximately 180,000 to 312,000 live births (2).
Is hypochondroplasia inherited?
The mode of inheritance for hypochondroplasia is autosomal dominant. Most cases result from spontaneous mutations (4).
What causes hypochondroplasia?
Hypochondroplasia is genetically heterogeneous. Approximately one-half of hypochondroplastic patients have a mutation within the fibroblast growth factor receptor 3 (FGFR3) gene (2).