Hypochondroplasia [Supplementary Concept]

A hereditary autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It resembles ACHONDROPLASIA, but is much milder and can be distinguished clinically and radiographically. Mutations in the FGFR3 gene have been identified. OMIM: 146000

Date introduced: November 5, 2012

MeSH Unique ID: C562937

Heading Mapped to:

• Bone and Bones/abnormalities
• Dwarfism
• Lordosis
• Limb Deformities, Congenital

Entry Terms:

• Hypochondrodysplasia