Contractural arachnodactyly

Contractural Arachnodactyly (CA), also known as Beals Syndrome, is a rare genetic disorder that affects the connective tissue. This condition is characterized by long, slender fingers and toes (arachnodactyly), contractures of joints (permanent shortening of a muscle or joint), and abnormalities in the ear shape and the spine. CA is similar in some aspects to Marfan Syndrome, another connective tissue disorder, but it is caused by mutations in a different gene.

Causes

Contractural Arachnodactyly is caused by mutations in the FBN2 gene, which encodes a protein called fibrillin-2. This protein plays a crucial role in the formation and maintenance of elastic fibers found in connective tissue. The mutation leads to the abnormal development of connective tissue, manifesting in the symptoms associated with CA.

Symptoms

The primary symptoms of Contractural Arachnodactyly include:

• Long, slender fingers and toes (arachnodactyly)
• Contractures of joints, particularly in the knees, elbows, and fingers
• Crumpled ears, with a characteristically folded appearance
• Curvature of the spine (Scoliosis or Kyphosis)
• Muscle hypoplasia (underdevelopment)
• Occasionally, cardiovascular problems may occur, but they are less common than in Marfan Syndrome.

Diagnosis

Diagnosis of Contractural Arachnodactyly is primarily based on clinical evaluation and the identification of characteristic physical findings. Genetic testing can confirm the diagnosis by identifying mutations in the FBN2 gene. Differential diagnosis is important to distinguish CA from other connective tissue disorders, especially Marfan Syndrome.

Treatment

There is no cure for Contractural Arachnodactyly, and treatment focuses on managing symptoms and preventing complications. This may include:

• Physical therapy to improve joint mobility and prevent contractures from worsening
• Orthopedic interventions, such as braces or surgery, to correct skeletal abnormalities
• Regular monitoring for potential cardiovascular complications
• Genetic counseling for affected individuals and their families

Prognosis

The prognosis for individuals with Contractural Arachnodactyly varies. While the condition can affect quality of life due to joint contractures and skeletal abnormalities, it generally does not significantly impact life expectancy. Early intervention and management of symptoms can help improve outcomes.

See Also

• Marfan Syndrome
• Connective Tissue Disorder
• Genetic Disorder

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