" /> Cardiofaciocutaneous Syndrome - CISMeF





Preferred Label : Cardiofaciocutaneous Syndrome;

NCIt synonyms : Cardiofaciocutaneous (CFC) Syndrome; CFC;

NCIt related terms : CFC Syndrome;

CISMeF acronym : CFC;

NCIt definition : 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.;

Alternative definition : NICHD: A rare, genetic syndrome most often caused by BRAF gene mutations, and characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin conditions, heart malformations, developmental delay, developmental delay and possible short stature due to reduced growth hormone.;

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31/07/2025


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