" /> Costello Syndrome - CISMeF





Preferred Label : Costello Syndrome;

NCIt definition : A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.;

Alternative definition : NICHD: An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia.;

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08/05/2025


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