Beals Syndrome

Beals Syndrome and Marfan Syndrome are similar in many ways. However, there are also some important differences between these two syndromes. In particular the joints can be affected differently.

It is important that a person with Beals Syndrome receive a proper and early diagnosis, in order for appropriate treatment to begin as soon as possible. Physical therapy, in order to improve joint mobility in some cases is beneficial.

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 sometimes known as congenital contractural arachnoldactyly (CCA), which refers to the joint contractors (shortening) that are key features of the Syndrome.

A person with Beals Syndrome may have many of the skeletal (bone) and aortic enlargement problems as people with Marfan Syndrome, and treatments for these problems are the same in both Syndromes.

However one difference from Marfan Syndrome is that in Beals Syndrome the eyes are not usually affected.

Another major difference is the way in which Beal’s Syndrome affects the body’s joints. A person with Beal’s Syndrome is often unable to fully extend joints like their fingers, elbows, knees, toes, and hips. In other words, those affected have joints that remain bent and deformed. As a result, when joints remain contracted for long periods of time, the muscles can become tight and short, restricting movement. Also, when contractors are present at birth (congenital), they can delay motor development.

Beals Syndrome can also have other symptoms, which can 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)

A person with Beals Syndrome should also have their heart be monitored annually to evaluate the status of the cardiovascular system.

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