Diastrophic Dysplasia

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What is diastrophic dysplasia?

Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility. This condition is also characterized by an inward- and downward-turning foot (a clubfoot), progressive curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.

The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal disorder called atelosteogenesis, type 2; however, diastrophic dysplasia tends to be less severe.

How common is diastrophic dysplasia?

Although the exact incidence of this condition is unknown, researchers estimate that it affects about 1 in 100,000 newborns. Diastrophic dysplasia occurs in all populations, but appears to be particularly common in Finland.

What genes are related to diastrophic dysplasia?

Mutations in the SLC26A2 gene cause diastrophic dysplasia.

Diastrophic dysplasia is one of a spectrum of 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. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that 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.

How do people inherit diastrophic dysplasia?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

Source: National Institutes of Health

New arthritis study findings have been reported by scientists at University of Manchester, Center for Molecular Medicine

"Significant associations between multiple single-nucleotide polymorphisms (SNPs) across SLC26A2 and systemic-onset JIA were found. In each case, homozygosity for the minor allele conferred the increased risk of disease susceptibility: rs1541915 (odds ratio [OR] 2.3, 95% confidence interval [95% CI] 1.4-3.7, p=0.0003), rs245056 (OR 2.8, 95% CI 1.7-4.6, p=0.00002), rs245055 (OR 2.5, 95% CI 1.2-5.0, p=0.004), rs245051 (OR 2.3, 95% CI 1.4-3.7, p=0.0005), rs245076 (OR 2.7, 95% CI 1.3-5.4, p=0.0015), and rs8073 (OR 2.3, 95% CI 0.9-5.6, p=0.04). These findings show the value of using monogenic disease loci as candidates for investigation in JIA. We identified a subgroup-specific association between SNPs within the SLC26A2 gene and systemic-onset JIA," wrote R. Lamb and colleagues, University of Manchester, Center for Molecular Medicine.

The researchers concluded: "Our findings also highlight systemic-onset JIA as being a distinctly different disease from that in the other JIA subgroups."

Lamb and colleagues published their study in Arthritis and Rheumatism (Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis. Arthritis and Rheumatism, 2007;56(4):1286-91).

For additional information, contact R. Lamb, University of Manchester, Arthritis Research Campaign Epidemiology Unit and Centre for Molecular Medicine, Manchester, UK.

The publisher's contact information for the journal Arthritis and Rheumatism is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA.

Keywords: United Kingdom, Manchester, Arthritis, Juvenile Rheumatoid Arthritis.

This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.