Beals Syndrome
Beals Syndrome Characteristics and Features
CCA patients are tall and slender with their arm span exceeding their height. Patients may display congenital contractures, which is the shortening of muscle tissue, rendering the muscle highly resistant to passive stretching of multiple joints and leaving them with an inability to fully extend a joint. Because of this, patients also have a limited range of motion in the joints of their fingers, hips, elbows, knees, and ankles. They may have abnormally-shaped ears, characterized by severe crumpling at the top, long and slender fingers and toes (arachnodactyly), a curved spine (scoliosis), reduced bone mass (osteopenia), long and narrow body type (dolichostenomelia), underdevelopment of muscles (muscular hypoplasia), and facial abnormalities such as unusually small jaws (micrognathia) and highly arched palate. Patients may also have chest abnormalities, either a concave chest (pectus excavatum) or pigeon chest (pectus carinatum). In addition, affected individuals may feet that are abnormally positioned (talipes equinovarus or clubfoot), outward displacement of the fingers (ulnar deviation of the fingers), an abnormally short neck, or displacement of the lens of the eye (ectopia lentis). In some cases, affected individuals may also have a slight deformity of the valve on the left side of their heart (mitral valve prolapse).
Beals Syndrome Complications
Although it was initially believed that CCA patients would not have an aortic root dilatation, recently it has been shown that some do. It has not, however, yet been determined if the aortic root dilatation seen in these patients will progress to an aortic dissection or rupture. It is still recommended that CCA patients have their heart monitored regularly by echocardiogram.
Beals Syndrome Definition
Beals Syndrome, also known as Congenital contractural arachnodactyly or CCA, is a heritable disorder involving the connective tissue of the skeleton. It is related to, but distinct from, Marfan Syndrome.
Beals Syndrome Treatment
There is no absolute cure for Beals syndrome. Management of this disorder usually involves physiotherapy early in childhood to increase mobility of the joints and to lessen the effects of low muscle bulk. The contractures have been known to improve on their own, though surgery may sometimes be required to release them. Physical therapy will be beneficial for people with Beals Syndrome as this can improve mobility of their joints. Braces are sometimes used to provide stability. Patients should also have their heart monitored on a yearly basis to check for any cardiovascular complications that may arise in some instances. There is no evidence of shortened lifespan among CCA patients. Individuals affected with this syndrome are to live normal lives unless complicated with cardiac problems or severe deformity of the vertebrae.