Cardiofaciocutaneous Syndrome

Last updated on: 11.08.2022

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Etiopathogenesis
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Cardiofaciocutaneous (CFC) syndrome is inherited in an autosomal dominant manner. Most affected individuals have CFC as a result of a de novo pathogenic variant. The offspring of an affected individual have a 50% risk of inheriting a CFC-related pathogenic variant. Prenatal testing for high-risk pregnancies is available if the pathogenic BRAF, MAP2K1, MAP2K2, or KRAS variant has been identified in an affected family member.

Diagnosis
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The diagnosis is based on clinical findings and molecular genetic testing. The four genes known to be associated with CFC syndrome are:

BRAF (75%)

MAP2K1 and MAP2K2 (25 %)

KRAS (<2%).

Therapy
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Treatment of manifestations: Care by a multidisciplinary team; treatment of cardiac structural defects, hypertrophic cardiomyopathy, and cardiac arrhythmias as in the general population; increased humidity or moisturizing lotions for xerosis and pruritus; increased caloric intake and a nasogastric tube or gastrostomy for severe feeding problems; surgical intervention for severe gastroesophageal reflux; routine treatment of growth hormone deficiency, ocular abnormalities; treatment of seizures may require polytherapy; occupational therapy, physical therapy, and speech therapy as needed. Consensus guidelines for medical management have been published.

Prophylaxis
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Antibiotic prophylaxis for subacute bacterial endocarditis, especially in patients with valvular malformations; screening for hypertrophic cardiomyopathy or predisposition to arrhythmias before anesthesia.

Literature
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  1. Rauen KA (2016) Cardiofaciocutaneous syndrome. In: Adam MP, Mirzaa GM et al. editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle 1993-2022.

Incoming links (2)

MAP2K1 Gene; MAP2K2 Gene;

Outgoing links (2)

BRAF Gene; Kras;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 11.08.2022