{"id":27115,"date":"2024-05-26T12:45:30","date_gmt":"2024-05-26T10:45:30","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27115"},"modified":"2025-08-26T09:58:29","modified_gmt":"2025-08-26T07:58:29","slug":"cardiofaciocutaneous-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/cardiofaciocutaneous-syndrome\/","title":{"rendered":"Cardiofaciocutaneous Syndrome"},"content":{"rendered":"

Cardiofaciocutaneous Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Cardiofaciocutaneous syndrome (CFC syndrome) belongs to the group of RASopathies and is caused by pathogenic variants in four different genes: BRAF<\/em> (CFC1, OMIM #115150), KRAS<\/em> (CFC2, OMIM #615278), MAP2K1<\/em> (CFC3, OMIM #615279) and MAP2K2<\/em> (CFC4, OMIM #615280). Clinically, it is characterized by various heart defects, characteristic facies, cutaneous abnormalities, musculoskeletal and neurological anomalies, and developmental delay.<\/p>\n<\/div>

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Synonym:<\/p>\n<\/div><\/div><\/div>

CFC-Syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

BRAF<\/em> (approx. 75%), KRAS <\/i>(approx. 2%), MAP2K1 <\/i>(approx. 25%), MAP2K2 <\/i>(approx. 25%)<\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade products:<\/p>\n<\/div><\/div><\/div>

Serin\/Threonine-Protein Kinase B-Raf (BRAF)<\/p>\n

GTPase KRas (KRAS)<\/p>\n

Dual specificity mitogen-activated protein kinase kinase 1 (MAP2K1)<\/p>\n

Dual specificity mitogen-activated protein kinase kinase 2 (MAP2K2)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Parts of the RAS\/MAPK signaling pathway<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

autosomal dominant, but often de novo <\/i>mutations<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

The general prevalence is not known. There are probably several hundred people affected with CFC syndrome worldwide. In Japan, the prevalence is around 1:810,000.<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>