Beals Syndrome: Bone Joint Disorder Overview

Beals syndrome is a rare genetic disorder that causes complications with the connective tissues within the skeletal system. Also known as Beals contractual arachnodactylt (BCA), this syndrome results in limited range of motion with the bone joints and other complications. Beals syndrome is often characterized by long, thin toes and fingers that can not fully be straightened due to a limitation in range of motion in all joints of the body, including hips, elbows, knees, and ankles. This syndrome produces a crumpled appearance with the ears. The condition is present at birth and abnormal bone joint defects are typically present, including clubbed feet.

Symptoms of Beals Syndrome

The symptoms of Beals syndrome are overall identical but can appear differently on each individual. Common symptoms of Beals syndrome include crumpling of the ears, long, thin fingers and toes, and arms and legs that are disproportional from one another. Less common symptoms of Beals syndrome include a small or thin chin, high arch of the mouth palate, and a protruding forehead. The spine will often bend or twist abnormally and generally worsens as the condition progresses. There is also a decreased muscle density in the lower legs. Other less common symptoms include eye and heart problems, including malfunctions of the heart valves.

Diagnosing Beals Syndrome

Diagnosing Beals syndrome is conducted through genetic testing because it is a genetic disorder. Other laboratory tests may be conducted while diagnosing Beals syndrome. Unfortunately, diagnosing Beals syndrome can not be conducted during pregnancy to determine if an unborn baby will have the condition due to lack of testing methods.

Treatment for Beals Syndrome

Sadly, there is currently no sure for Beals syndrome. Treatment for Beals syndrome generally includes managing the symptoms of the disorder. Treatment for Beals syndrome typically begins early on in childhood with physiotherapy to slow the loss of bone joint mobility. Treatment with physiotherapy has shown to produce some improvement with patients' range of motion.

Treatment for spinal abnormality associated with Beals syndrome is often needed. To treat the abnormalities of the spine, bone specialist are consulted. A back brace is worn to prevent the condition from worsening and to properly support the torso.

In rare cases where heart and eye complications have resulted due to Beals syndrome, treatment for Beals syndrome then includes medications, eye glasses, and possible surgeries to correct any heart and eye complications that may have occurred. Medications are often prescribed to treat the heart complications associated with the disorder.

With proper treatment of Beals syndrome and early intervention, the prognosis for those with the disorder is more promising than those that do not seek treatment. Genetic counseling is often recommended for families to understand the condition and learn what to expect. With proper treatment of Beals syndrome a gradual improvement in bone joint mobility is often seen. While the curvature of the spine often worsens over time, the overall outcome for patients with Beals syndrome is promising and a patient's lifespan does not appear to be compromised by the Beals syndrome.

References:

"Beals Syndrome" NCIB.gov

"Beals Syndrome" Marfan.org

"A Newborn with Beals Syndrome" Medscape.com

"Beals Syndrome" WebMD.com