Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Cartilage-hair hypoplasia
Introduction
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, HOSTETLER JA, RUANGWIT U, EGELAND JA (1965). “DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA”. Bull Johns Hopkins Hosp. 116: 285–326. PMID 14284412.