Beals syndrome is similar to Marfan syndrome in many ways, but has distinct differences that should be noted. It is also caused by a mutation on the FBN2 gene rathern than FBN1.
What is Beals syndrome?
Beals syndrome, or congenital contractural arachnoldactyly (CCA), is a genetic condition caused by an alteration (mutation) in a gene (FBN2) that is closely related to the gene (FBN1) that causes Marfan syndrome. It is similar but distinct from Marfan syndrome.
Beals syndrome can cause contractures of the joints (an inability to fully extend a joint) and abnormally shaped ears. People with Beals syndrome have many of the skeletal problems and aortic enlargement that affect people with Marfan syndrome, and the treatment of these problems is the same. The eyes are not affected.
What are the symptoms of Beals syndrome?
Following are features commonly associated with Beals syndrome:
- Inability to fully extend multiple joints such as fingers, elbows, knees, toes and hips (contractures)
- Delay in motor development often occurs (due to congenital contractures)
crumpled appearance to the top of the ear
- Long, slender fingers and toes (arachnodactyly)
- Curvature of the spine (scoliosis)
- Backward and lateral curvature of the spine at birth or early childhood (kyphoscoliosis)
- Reduced bone mass (osteopenia)
- Long, narrow body type (dolichostenomelia)
- Chest abnormalities - concave chest (pectus excavatum) or pigeon chest (pectus carinatum)
- Underdevelopment of muscles - particularly calves (muscular hypoplasia)
- Facial abnormalities, such as unusually small jaws (micrognathia) and highly arched palate
- Occasionally aortic enlargement and/or mitral valve regurgitation
What is the treatment for Beals syndrome?
People with Beals Syndrome benefit from physical therapy that can improve mobility of joints. Sometimes braces are used to provide stability.
People with Beals syndrome should have their heart monitored on a yearly basis to check for cardiovascular complications that may arise.