Hypochondroplasia

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).

• What are the physical characteristics of Hypochondroplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References