Congenital contractural arachnodactyly

Disease Overview

Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; “crumpled”-looking ears; and curvature of the spine (kyphoscoliosis). Enlargement (dilation) of the aorta and other features might also be present in some affected people.[1454][1455][12997] CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern.[1454][1455] CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene. Treatment includes physical therapy or surgery for joint contractures, bracing and/or surgery for kyphoscoliosis, and standard management of aortic root dilation.[1454]

Synonyms

• Beals syndrome
• Arachnodactyly, contractural Beals type
• Contractures, multiple with arachnodactyly
• Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
• Beals-Hecht syndrome
• CCA
• Distal arthrogryposis type 9