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Cardiofaciocutaneous syndrome in Child
Other Resources UpToDate PubMed

Cardiofaciocutaneous syndrome in Child

Contributors: Katherine Levandoski, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Cardiofaciocutaneous syndrome (CFC) is a rare autosomal dominant condition associated with mutations in the Ras/mitogen-activated protein kinase pathway that regulates cell differentiation, proliferation, and apoptosis. The majority of cases of CFC are caused by de novo gain of function mutations in BRAF, MEK1, MEK2, or, rarely, KRAS genes.

The worldwide prevalence of CFC is unknown. Men and women are equally affected.  

CFC is characterized by a distinctive craniofacial appearance, cutaneous abnormalities, congenital heart defects, growth retardation, and intellectual disability.

Codes

ICD10CM:
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature

SNOMEDCT:
403770008 – Cardio-facio-cutaneous syndrome

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Differential Diagnosis & Pitfalls

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Therapy

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Last Reviewed:07/06/2017
Last Updated:01/12/2022
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Cardiofaciocutaneous syndrome in Child
A medical illustration showing key findings of Cardiofaciocutaneous syndrome (Cardio Defects) : Failure to thrive
Clinical image of Cardiofaciocutaneous syndrome - imageId=2362688. Click to open in gallery.  caption: 'Scaly, follicular-based, skin-colored, and light brown papules on the knee.'
Scaly, follicular-based, skin-colored, and light brown papules on the knee.
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