CCA Syndrome

Overview

Type of disease: Rare conditions

Congenital Contractural Arachnodactyly Syndrome (CCA), also known as Beal’s Syndrome, is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes that causes the muscles, ligaments, or tendons at major joints (e.g. knees, shoulders, hips) to be shorter than usual. This results in abnormal bending of the joints, or contractures. This condition can also cause a person to have unusually long fingers or toes that cannot be straightened because of joint contractures. In addition, CCA patients tend to have ears that appear to be crumpled and in more serious cases, scoliosis, or abnormal curvature of the spine. Although there is currently no cure for CCA, there are various resources to help manage the condition and treat contractures, such as physical therapy, bracing, and surgical correction. Doctors seek help from physicial therapists and community services to provide support and care for families affected by Congenital Contractural Arachnodactyly.

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