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Cardiofaciocutaneous Syndrome

Abstract

CLINICAL CHARACTERISTICS

Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.

DIAGNOSIS/TESTING

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%), and KRAS (<2%).

MANAGEMENT

Treatment of manifestations: Care by a multidisciplinary team; management of cardiac structural defects, hypertrophic cardiomyopathy, and arrhythmias as in the general population; increased ambient humidity or hydrating 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 management of growth hormone deficiency, ocular abnormalities; management of seizures may require polytherapy; occupational therapy, physical therapy, and speech therapy as needed. Consensus medical management guidelines have been published. Prevention of secondary complications: Antibiotic prophylaxis for subacute bacterial endocarditis primarily for those with valve dysplasias; evaluation for hypertrophic cardiomyopathy or a predisposition to cardiac rhythm disturbances prior to anesthesia. Surveillance: Periodic echocardiogram (hypertrophic cardiomyopathy), electrocardiogram (rhythm disturbances), neurologic and eye examination, scoliosis check, and assessment of growth and cognitive development.

GENETIC COUNSELING

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

Links

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  • Authors

    , , , , , ,

    Publisher

    University of Washington, Seattle
    Seattle (WA)

    Language

    eng

    PubMed ID

    20301365

    Citation

    Rauen KA: Cardiofaciocutaneous Syndrome.GeneReviews®. Edited by Adam MP, et al: University of Washington, Seattle, 1993, Seattle (WA).
    Rauen KA. Cardiofaciocutaneous Syndrome. Edited by Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
    Rauen KA. (1993). Cardiofaciocutaneous Syndrome. Edited by Adam MP & Ardinger HH & Pagon RA, et al. In GeneReviews®. Seattle (WA): University of Washington, Seattle;
    Rauen KA. Edited by Adam MP, et al. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
    * Article titles in AMA citation format should be in sentence-case
    TY - CHAP T1 - Cardiofaciocutaneous Syndrome BT - GeneReviews® A1 - Rauen,Katherine A, Y1 - 1993/// PY - 2016/3/3/pubmed PY - 2016/3/3/medline PY - 2010/3/20/entrez KW - CFC Syndrome KW - CFC Syndrome KW - Dual specificity mitogen-activated protein kinase kinase 1 KW - Dual specificity mitogen-activated protein kinase kinase 2 KW - GTPase KRas KW - Serine/threonine-protein kinase B-raf KW - BRAF KW - KRAS KW - MAP2K1 KW - MAP2K2 KW - Cardiofaciocutaneous Syndrome N2 - CLINICAL CHARACTERISTICS: Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals. DIAGNOSIS/TESTING: 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%), and KRAS (<2%). MANAGEMENT: Treatment of manifestations: Care by a multidisciplinary team; management of cardiac structural defects, hypertrophic cardiomyopathy, and arrhythmias as in the general population; increased ambient humidity or hydrating 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 management of growth hormone deficiency, ocular abnormalities; management of seizures may require polytherapy; occupational therapy, physical therapy, and speech therapy as needed. Consensus medical management guidelines have been published. Prevention of secondary complications: Antibiotic prophylaxis for subacute bacterial endocarditis primarily for those with valve dysplasias; evaluation for hypertrophic cardiomyopathy or a predisposition to cardiac rhythm disturbances prior to anesthesia. Surveillance: Periodic echocardiogram (hypertrophic cardiomyopathy), electrocardiogram (rhythm disturbances), neurologic and eye examination, scoliosis check, and assessment of growth and cognitive development. GENETIC COUNSELING: Cardiofaciocutaneous (CFC) syndrome is inherited in an autosomal dominant manner. Most affected individuals have CFC as the result of a de novo pathogenic variant. The offspring of an affected individual are at a 50% risk of inheriting a CFC-related pathogenic variant. Prenatal testing for pregnancies at risk is possible if the BRAF, MAP2K1, MAP2K2, or KRAS pathogenic variant has been identified in an affected family member. PB - University of Washington, Seattle CY - Seattle (WA) UR - https://www.unboundmedicine.com/medline/citation/20301365/GeneReviews®:_Cardiofaciocutaneous_Syndrome L2 - https://www.ncbi.nlm.nih.gov/books/NBK1186 DB - PRIME DP - Unbound Medicine ER -