Arachnodactyly, Contractural Beals Type

Below you will find more information about Arachnodactyly, Contractural Beals Type from Medigest. If you believe that you are suffering from any of the symptoms of Arachnodactyly, Contractural Beals Type it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Arachnodactyly, Contractural Beals Type and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Arachnodactyly, Contractural Beals Type comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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 and the permanent fixation of affected joints like hips, fingers, knees and elbows that is in a flexed position.

Diagnosis

Diagnosis of Contractural Beals Type Arachnodactyly is based on the clinical signs present. Molecular genetic testing could also confirm the disease.

Treatment

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.

Symptoms and 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 and slender toes/fingers (Arachnodactyly) ? Crumpled appearance of abnormally shaped ear ? Congenital contractures due to delay in motor development

Causes

Studies have shown that the cause of Contractural Beals Type Arachnodactyly is a mutation or alternation in the gene FBN2.

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