Costello Syndrome: A Rare Genetic Disorder
Understanding Costello Syndrome
Costello syndrome (CS) is a rare genetic disorder that affects multiple parts of the body. It is caused by activating germline mutations in the HRAS gene, which is responsible for regulating cell growth and differentiation.
Symptoms of Costello Syndrome
Individuals with CS can exhibit a wide range of symptoms, including: * Distinctive facial features (coarse facial appearance, full cheeks, thick lips) * Skeletal abnormalities (short stature, joint pain, curvature of the spine) * Skin problems (dry skin, eczema, hyperpigmentation) * Intellectual disability * Heart defects * Gastrointestinal issues
Diagnosis and Treatment
CS is diagnosed based on clinical findings and genetic testing. There is currently no cure for the condition, but treatment focuses on managing symptoms and improving quality of life. This may include: * Surgery for skeletal abnormalities * Medications for heart defects * Special education and support for intellectual disability * Physical therapy and occupational therapy
Life Expectancy and Prognosis
The life expectancy of individuals with CS varies depending on the severity of their symptoms. While some individuals live into adulthood, others may have a shortened life expectancy. The most common cause of death in individuals with CS is heart disease.
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