Streeter's dysplasia

Streeter's Dysplasia, also known as Congenital Contractural Arachnodactyly (CCA), is a rare genetic disorder that affects the connective tissue in the body. This condition is characterized by long fingers and toes, which are often described as spider-like, a feature that gives the condition its alternative name, Arachnodactyly. It is important to differentiate Streeter's Dysplasia from similar conditions such as Marfan Syndrome, with which it shares some clinical features but has a different genetic cause and clinical management.

Etiology

Streeter's Dysplasia 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 function of elastic fibers in the connective tissue. The mutations lead to abnormalities in the connective tissue, manifesting in the skeletal system, cardiovascular system, and the skin.

Symptoms

The primary symptoms of Streeter's Dysplasia include:

• Arachnodactyly - unusually long and slender fingers and toes
• Contractures - permanent tightening of muscles, tendons, ligaments, or skin that prevents normal movement of the associated body part, commonly seen in the knees and elbows
• Crumpled ears - an unusual ear shape due to abnormal cartilage
• Musculoskeletal abnormalities - including scoliosis (curvature of the spine) and pectus excavatum (a sunken appearance of the chest)
• Cardiovascular anomalies - such as mitral valve prolapse, though less common than in Marfan Syndrome

Diagnosis

Diagnosis of Streeter's Dysplasia is primarily based on clinical examination and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the FBN2 gene. Differential diagnosis is crucial to distinguish it from other connective tissue disorders like Marfan Syndrome and Ehlers-Danlos Syndrome.

Treatment

There is no cure for Streeter's Dysplasia, and treatment focuses on managing symptoms and preventing complications. This may include:

• Physical therapy to improve mobility and manage contractures
• Orthopedic interventions for skeletal abnormalities
• Regular cardiovascular monitoring to detect and manage potential heart issues
• Genetic counseling for affected individuals and their families

Prognosis

The prognosis for individuals with Streeter's Dysplasia varies depending on the severity of symptoms and the presence of cardiovascular complications. With appropriate management, most individuals can lead a normal life.

See Also

• Marfan Syndrome
• Ehlers-Danlos Syndrome
• Genetic Disorders
• Connective Tissue Disease

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