What is Beals Syndrome?

Beals syndrome, or congenital contractural arachnoldactyly (CCA) is a rare condition caused by a genetic mutation. The defective gene limits the body's ability to produce fibrillin, which is an important substance used in the development of connective tissue. The condition creates a variety of physical irregularities. Doctors treat the disorder with physical therapy.

Doctors can often diagnose Beals syndrome in infant patients based on the child's telltale physical abnormalities. Affected babies usually have long, slender, narrow bodies with elongated fingers and toes. They have a limited ability to move their joints, which makes it difficult for them to straighten out their fingers, toes or other body parts.

Many babies who have Beals syndrome are born with crumpled ears, a small jawline and an unusually high arch in the roof of their mouths. They may also have sunken or protruding chest cavities. Others have club feet, which are feet that turn in at the ankles to face one another. As they mature, these children might experience difficulty developing motor coordination skills or have nearsighted vision.

Some of these patients have scoliosis, which is curvature of the spine, and others have underdeveloped muscles. Patients who have Beals syndrome occasionally have mitral valve prolapse, which is a condition of the heart characterized by a defective valve between the left top and bottom chambers, or an enlarged aortic valve. Other serious heart conditions might also occur.

This condition is similar to Marfan syndrome, another genetic disorder that affects the body's skeletal structure and connective tissue. People who have Marfan syndrome are tall, with long arms and legs, and many of them have flat feet, curvature of the spine, a narrow face and poor long-distance vision.

Beals syndrome affects boys and girls at equal rates. It is not prevalent in any particular ethnic group. Children inherit the disorder from their parents.

This condition also occurs when genes randomly mutate. Even children whose parents have no history of the disorder can be born with Beals syndrome. People who develop the condition because of a spontaneous mutation in their genetic structure can pass the defective gene down to their children.

As children who have this condition age, they gradually develop more ability to straighten out their joints, but their spinal curvature tends to worsen. Some doctors recommend back braces or surgery to straighten out the spine. Doctors might also monitor the heart or prescribe corrective glasses as needed, depending on the patient.

There had been no cure found for this disorder by early 2011. Most patients can anticipate a normal life span. Adults who have Beals syndrome might benefit from genetic counseling to determine their risk of passing the condition to their potential offspring.