Beals-Hecht syndrome
Beals-Hecht Syndrome Beals-Hecht syndrome, also known as Congenital Contractural Arachnodactyly (CCA), is a rare genetic disorder characterized by a variety of skeletal abnormalities. It is named after Rodney K. Beals and Frederick Hecht, who first described the condition. This article provides a comprehensive overview of Beals-Hecht syndrome, including its causes, symptoms, diagnosis, and treatment options.
Causes[edit | edit source]
Beals-Hecht syndrome is caused by mutations in the FBN2 gene, which provides instructions for making a protein called fibrillin-2. Fibrillin-2 is essential for the formation of elastic fibers found in connective tissue. Mutations in the FBN2 gene lead to the production of abnormal fibrillin-2, which affects the development of connective tissues, particularly in the skeletal system.
Symptoms[edit | edit source]
The symptoms of Beals-Hecht syndrome can vary widely among affected individuals, but common features include:
- Arachnodactyly: Long, slender fingers and toes.
- Contractures: Permanent shortening of muscles or tendons around joints, leading to restricted movement.
- Kyphoscoliosis: A combination of kyphosis (outward curvature of the spine) and scoliosis (sideways curvature of the spine).
- Crumpled ears: The outer ear may appear crumpled or misshapen.
- Muscle hypoplasia: Underdevelopment of muscles.
Diagnosis[edit | edit source]
Diagnosis of Beals-Hecht syndrome is based on clinical evaluation, family history, and genetic testing. A healthcare provider may look for characteristic physical features and may order genetic tests to identify mutations in the FBN2 gene.
Treatment[edit | edit source]
There is no cure for Beals-Hecht syndrome, but treatment focuses on managing symptoms and improving quality of life. Treatment options may include:
- Physical therapy: To improve joint mobility and muscle strength.
- Orthopedic interventions: Such as braces or surgery to correct skeletal deformities.
- Regular monitoring: To assess and manage complications such as scoliosis.
Prognosis[edit | edit source]
The prognosis for individuals with Beals-Hecht syndrome varies depending on the severity of symptoms. With appropriate management, many individuals can lead relatively normal lives.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Beals-Hecht syndrome is a rare disease.
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