Diastrophic Dysplasia eMedicine Orthopedics

Description: Synonyms and related keywords: classic diastrophic dysplasia, mild diastrophic dysplasia, skeletal dysplasia, diastrophic variants, cherub dwarf, diastrophic dwarfism, dwarfing, diastrophic nanism syndrome, achondroplasia with clubfeet, diastrophic variant, arthrogryposis multiplex congenita, DTDST gene AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Indications Relevant Anatomy And Contraindications Workup Treatment Complications Outcome And Prognosis Future And Controversies Pictures Bibliography Author: Shital Parikh, MBBS, MS, Consulting Staff, Department of Orthopedics, Buchanan General Hospital Coauthor(s): Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India; Twee Do, MD, Assistant Professor, Department of Pediatric Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Neuromuscular Orthopedic Services, Cincinnati Children's Hospital Medical Center
Skeletal dysplasias are a heterogenous group of dysplasias that include more than 200 recognized conditions. They are disorders of growth and remodeling of bone and cartilage. Most disorders result in short stature, which is defined as height more than 2 standard deviations below the mean for the population at a given age. Lamy and Maroteaux first delineated this syndrome in 1960 and coined the term diastrophic dwarfism. The term diastrophic is derived from a Greek root meaning distorted; it is a geological term used to describe the bending and twisting of the earth's crust during geomorphogenesis. This terminology seems appropriate for this disorder, in which the skeleton appears to be twisted. In 1977, at the Second International Conference for Nomenclature for Constitutional Diseases of Bone, the name was changed from diastrophic dwarfism to diastrophic dysplasia.