Cardio-facio-cutaneous syndrome


JABL: A congenital anomaly/mental retardation syndrome marked by heart defects, characteristic facies, ectodermal abnormalities, and growth failure. CFC and Noonan syndromes are sometimes considered the same entity,NCI: A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay.

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