Diastrophic+dysplasia

[|Diastrophic dysplasia] kitty -the gene associated with this disorder isSLC26A2 -it is autosomal recessive, which means both copies of the gene in each cell have mutations. The parents each carry one copy of the mutated gene. -symptoms are short stature with very short arms and legs. Also have osteoarthritis and joint deformities, club foot, cleft palate, and hitch hiker thumbs. - found in all populations but particularly prevalent in Finland -The diagnosis is confirmed by molecular genetic testing of //SLC26A2(DTDST//), the only gene known to be associated with DTD. - in children, physiotherapy and casting to maintain joint positioning and mobility as much as possible; surgical correction of clubfoot; cervical spine surgery restricted to individuals with clinical or neurophysiologic evidence of spinal cord impingement; surgical correction of scoliosis in those at risk for rapid increase in curvature; total arthroplasty of hips and knees in relatively young adults to decrease pain and increase mobility. -