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.
Cardiofaciocutaneous syndrome in Child
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Synopsis
Codes
ICD10CM:
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature
SNOMEDCT:
403770008 – Cardio-facio-cutaneous syndrome
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature
SNOMEDCT:
403770008 – Cardio-facio-cutaneous syndrome
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Noonan syndrome – More frequent easy bleeding and bruising, fewer cutaneous features, caused by mutations in PTPN11.
- Costello syndrome – Papillomata of the face or perianal regions, multifocal atrial tachycardia, ulnar deviation of wrist and fingers, caused by mutations in HRAS.
- Noonan syndrome with multiple lentigines (formerly LEOPARD syndrome) – Multiple skin lentigines, frequent sensorineural deafness, cardiac conduction abnormalities, caused by mutations in PTPN11.
- Baraitser-Winter syndrome – Iris coloboma, lissencephaly, pachygyria, aortic valve abnormalities, caused by mutations in ACTB or ACTG1.
- Noonan syndrome with loose anagen hair – Mitral valve dysplasia, associated with mutations in SHOC2.
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Therapy
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References
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Last Reviewed:07/06/2017
Last Updated:01/12/2022
Last Updated:01/12/2022
Cardiofaciocutaneous syndrome in Child