CONGENITAL CONTRACTURAL ARACHNODACTYLY (BEALS-SYNDROME)

Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The c linical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures o f the elbows, knees, and hips, and mild muscle hypoplasia especially o f the calf muscles. Many patients have kyphoscoliosis and mitral valve prolapse and, very occasionally, aortic root dilatation and ectopia l entis have been described. Linkage to a gene coding for fibrillin on c hromosome 5q2331 has been shown in several kindreds. The prognosis for a normal lifespan is good and improvement in joint contractures is us ual.