Beals syndrome and Marfan syndrome are similar in many ways, but there are also some important differences, specifically how the joints are affected. It is important for people with features of Beals syndrome to obtain an accurate diagnosis so they can benefit from treatments, such as physical therapy, to improve joint mobility as soon as possible.
What is Beals syndrome?
Beals syndrome is caused by a mutation in a gene that helps build connective tissue called fibrillin-2. It is closely related to the gene (fibrillin-1) that causes Marfan syndrome. Beals syndrome is also known as congenital contractural arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome.
How does Beals syndrome compare with Marfan syndrome?
People with Beals syndrome have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same.
One difference from Marfan syndrome is that, in Beals syndrome, the eyes are not affected. Another major difference is the way in which Beals syndrome affects the body’s joints. People with Beals syndrome are unable to fully extend joints like their fingers, elbows, knees, toes, and hips. Their joints remain bent and deformed. When joints remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When contractures are present at birth (congenital), they can delay motor development.
Other common symptoms of Beals syndrome include:
- Long, slender fingers and toes
- Long, narrow body type
- Curved spine (scoliosis)
- Backward or lateral curved spine at birth or early childhood
- Chest sinks in or sticks out
- Reduced bone mass
- Facial abnormalities (unusually small jaws, high-arched palate)
- Crumpled appearance to the top of the ear
- Aortic enlargement and/or mitral valve regurgitation (occasionally)
People with Beals syndrome should also have their heart monitored on a yearly basis to check for cardiovascular complications that may arise.
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