Cardiofaciocutaneous syndrome
Definition
Cardiofaciocutaneous syndrome is an extremely rare genetic condition present at birth and characterized by mental retardation, slow growth, and abnormalities of the heart, face, skin, and hair. There is no cure for cardiofaciocutaneous syndrome. Treatment centers on the correction of heart abnormalities and strategies to improve the quality of life of the affected individual.
Description
Cardiofaciocutaneous syndrome was first identified and described in 1986 by J. F. Reynolds and colleagues at the Shodair Children's Hospital in Helena, Montana and at the University of Utah. These physicians identified and described eight children with a characteristic set of mental and physical changes including abnormal skin conditions, an unusual face, sparse and curly hair, heart defects, and...
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