Cartilage hair hypoplasia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Cartilage-hair hypoplasia (CHH) is a form of short-limbed dwarfism due to skeletal dysplasia. It is an autosomal recessive inherited disorder. It was first reported in 1965 by McKusick et al.

References

• McKusick VA, Eldridge R, Hosteler JA, Ruangwit U, Egeland JA (1965). "Dwarfism In The Amish. II. Cartilage-hair hypoplasia". Bull Johns Hopkins Hosp. 116: 285–326. PMID 14284412.CS1 maint: Multiple names: authors list (link)