Complete Information on Diastrophic dysplasia with Treatment and Prevention
 Diastrophic dysplasia is inherited as an autosomal recessive trait. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development.
Diastrophic dysplasia is a disorder of cartilage and ivory growth. The precise incidence of this circumstance is unidentified. Diastrophic dysplasia occurs in all populations but appears to be especially popular in finland. Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth. Swelling of the external ears is also common in newborns and can lead to thickened, deformed 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.
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