What is Diastrophic Dysplasia? - Find more information and articles related to Diastrophic Dysplasia at onlymyhealth.com
Diastrophic dysplasia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Diastrophic dysplasia is a disorder of cartilage and bone development. The characteristics of the disorder are short stature, short limbs and skeletal deformities.
Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the slc26a2 gene. This gene plays a key role in the development of cartilage and for its conversion to bone.
Diastrophic dysplasia occurs in all populations but appears to be particularly common in finland.