Achondroplasia eMedicine Orthopedics

Description: Synonyms and related keywords: rhizomelic dwarfism, short-limb dwarfism, short-trunk dwarfism, chondrodystrophia fetalis, classic chondrodystrophy, dyschondroplasia fetalis, chondrodysplasia, micromelia, skeletal dysplasia, little people, achondroplastic, skeletal dysplasia
Author: Shital Parikh, MBBS, MS, Consulting Staff, Department of Orthopedics, Buchanan General Hospital
Coauthor: Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India
Achondroplasia is the most common type of short-limb disproportionate dwarfism. The term achondroplasia, implying absent cartilage formation, was first used by Parrot in 1878. Although the word achondroplasia is inaccurate from a histopathologic perspective, its use is universal and accepted by the International Working Group on Constitutional Diseases of the Bone.