Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility.
The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis, type 2. Diastrophic dysplasia tends to be less severe, however.
Diastrophic dysplasia affects about 1 in 100,000 births. Mutations in the SLC26A2 gene cause diastrophic dysplasia, and it is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein made by this gene is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, but in adulthood this tissue continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.
This condition is an autosomal recessive disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. The parents of a child with an autosomal recessive disorder are usually not affected by the disorder.
Matt Roloff, a businessman and motivational speaker who suffers from diastrophic dysplasia and is a vocal proponent of research and understanding of the disorder, as well as the assimilation of fellow sufferers into everyday life
The Little People of America is an organization of people with all kinds of short-stature syndromes, family members and caregivers, dedicated to improving the quality of life of affected persons, and improving their integration into society.
This article incorporates some public domain text from The U.S. National Library of Medicine
Research findings from University of Wisconsin-Madison, Department of Medical Genetics update understanding of genetics and diastrophic dysplasia.
Dec 31, 2010; Researchers detail in 'Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic...