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Congenital Contractural Arachnodactyly (CCA) Syndrome

What is CCA syndrome?

Congenital contractural arachnodactyly (CCA) syndrome, also known as Beal syndrome, is a rare condition that is characterized by physical abnormalities. Those affected will be very tall and thin with long limbs, fingers, and toes. 

What are the symptoms of CCA syndrome?

The effects of this syndrome may vary between individuals, but the majority of symptoms are physical abnormalities. Those affected are very tall and thin, with an arm-span that is longer than their body. They will also have very long fingers and toes, which is called arachnodactyly. Crumpled ears, joint contractures, bowed long bones, underdeveloped muscles, and a curved spine are other common symptoms. Some people with CCA syndrome also have aortic root dilation and abnormalities in the skull and face. 

What causes CCA syndrome?

The FBN2 gene is mutated in those with this syndrome. It creates a protein called fibrillin-2, which is responsible for the creation of microfibrils. These fibers are necessary for the strength and flexibility of connective tissue, along with the production of growth factors. The lack of growth factors and weakness of the connective tissue lead to the characteristics of CCA syndrome. 

This mutated gene is inherited in an autosomal dominant pattern, meaning only one copy of the mutation needs to be passed down for the symptoms to be present. In some, the mutation is sporadic. 

How is CCA syndrome diagnosed?

Doctors will conduct a physical examination to look for the characteristic symptoms of this disorder. They confirm this diagnosis through genetic testing. If there is a family history of CCA syndrome, prenatal testing can be done. 

What are the treatments for CCA syndrome?

Treatment focuses on the management of symptoms. Physical therapy is a staple of treatment, but if joint contractures and scoliosis are severe they may require surgery. Braces are also common in treatment.

Doctors also recommend that the heart is monitored in order to find any cardiac abnormalities. If there are any issues with the heart, rapid diagnosis and treatment are key.  

Where can I find out more about CCA syndrome?

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