January 18, 2010 — Connective Tissue Gene Tests (CTGT) announced today that it has added tests for two inherited disorders caused by mutations in the HSPG2 gene: Schwartz-Jampel syndrome, type 1 (SJS1; MIM 255800) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH; MIM 224410).
Schwartz-Jampel syndrome, type 1 (SJS1) is a chondrodysplasia with associated myotonia. The disorder is characterized by postnatal short stature and dysmorphic fixed facies with pursed lips, bowed long bones, low set ears, blepharophimosis and spinal abnormalities that may include platyspondyly, coronal cleft vertebrae, kyphoscoliosis and lumbar lordosis, and other possible findings in some individuals. Schwartz-Jampel syndrome, type 1 is an autosomal recessive disorder caused by mutations in the HSPG2 gene.
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH) is a neonatal lethal skeletal dysplasia. Clinical findings include short, bowed long bones, small chest, anisospondyly, dyssegmental dysplasia, flat face with posteriorly rotated ears, micrognathia, cleft palate and reduced joint mobility. Patients may also have encephalocele, pulmonary hypoplasia and talipes equinovarus. Like SJS1, Dyssegmental dysplasia, Silverman-Handmaker type is an autosomal recessive disorder caused by mutations in the HSPG2 gene.
More information can be found regarding the new tests on CTGT's web site www.ctgt.net, and may be ordered using the updated order forms found on the site.
As new tests are added frequently, CTGT advise clients to regularly download the latest requisition forms from the Requisition Form page on the CTGT web site.