ARACHNODACTYLY, CONTRACTURAL BEALS TYPE & TREATMENT
Definition: What is "Arachnodactyly, Contractural Beals Type"?
Arachnodactyly, contractural beals type definition: Contractural Beals Type Arachnodactyly is a very rare genetic disorder also known as Beals Syndrome. It is characterized by permanently flexed fingers, abnormally shaped ears & the permanent fixation of affected joints like hips, fingers, knees & elbows that is in a flexed position.
Symptoms & Signs
Symptoms of Contractural Beals Type Arachnodactyly may include one of the following skeletal abnormalities: ? Facial abnormalities ? Muscular hypoplasia ? Pectus Deformities ? Reduced Bone Mass (Osteopenia) ? Curvature of the spine (Scoliosis) ? Long & slender toes/fingers (Arachnodactyly) ? Crumpled appearance of abnormally shaped ear ? Congenital contractures due to delay in motor development
Treatment: How to Treat "Arachnodactyly, Contractural Beals Type"?
Treatment options include physical therapies to improve joint mobility or braces to provide stability. Heart monitoring is also necessary to check for cardiovascular complications that may arise due to the symptoms present.
Studies have shown that the cause of Contractural Beals Type Arachnodactyly is a mutation or alternation in the gene FBN2.
Diagnosis of Contractural Beals Type Arachnodactyly is based on the clinical signs present. Molecular genetic testing could also confirm the disease.