Beals Syndrome

Definition

Definition of 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.

Symptoms

Symptoms of Beals Syndrome
Following are features commonly associated with Beals syndrome:

1. Inability to fully extend multiple joints such as fingers, elbows, knees, toes and hips (contractures)
2. Delay in motor development often occurs (due to congenital contractures)
3. crumpled appearance to the top of the ear
4. Long, slender fingers and toes (arachnodactyly)
5. Curvature of the spine (scoliosis)
6. Backward and lateral curvature of the spine at birth or early childhood (kyphoscoliosis)
7. Reduced bone mass (osteopenia)
8. Long, narrow body type (dolichostenomelia)
9. Chest abnormalities - concave chest (pectus excavatum) or pigeon chest (pectus carinatum)
10. Underdevelopment of muscles - particularly calves (muscular hypoplasia)
11. Facial abnormalities, such as unusually small jaws (micrognathia) and highly arched palate
12. Occasionally aortic enlargement and/or mitral valve regurgitation

Causes

Causes of Beals 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.

Diagnosis

Diagnosis of 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

Treatment of Beals Syndrome

1. People with Beals Syndrome benefit from physical therapy that can improve mobility of joints. Sometimes braces are used to provide stability.
2. People with Beals syndrome should have their heart monitored on a yearly basis to check for cardiovascular complications that may arise.

Prognosis

Prognosis of Beals Syndrome
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.

Prevention

Prevention of Beals Syndrome
Consult with your doctor.