title: Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
abstract: Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics and Ophthalmology, and Children's Hospitals and Clinics of Minnesota, Saint Paul, Minnesota; pierp001@umn.edu.
authors.forename: Mary Ella M
authors.initials: ME
authors.lastname: Pierpont
authors.affiliation: Department of Molecular and Human Genetics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas;
authors.forename: Pilar L
authors.initials: PL
authors.lastname: Magoulas
authors.affiliation: Madison Clinic for Pediatric Diabetes, Benioff Children's Hospital and University of California at San Francisco, San Francisco, California;
authors.forename: Saleh
authors.initials: S
authors.lastname: Adi
authors.affiliation: Medical Genetics Center, Federal University of Sao Paulo, Sao Paulo, Brazil;
authors.forename: Maria Ines
authors.initials: MI
authors.lastname: Kavamura
authors.affiliation: Institute of Medical Genetics, A Gemelli School of Medicine, Catholic University, Rome, Italy;
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.affiliation: Department of Pediatrics, University of Kentucky, Lexington, Kentucky;
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Noonan
authors.affiliation: Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota;
authors.forename: Elizabeth I
authors.initials: EI
authors.lastname: Pierpont
authors.affiliation: Department of Orthopedics, University of Texas Health Sciences Center, San Antonio, Texas;
authors.forename: Kent
authors.initials: K
authors.lastname: Reinker
authors.affiliation: Department of Cardiology and Division of Genetics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts;
authors.forename: Amy E
authors.initials: AE
authors.lastname: Roberts
authors.affiliation: Departments of Human Genetics and Ophthalmology, Emory University School of Medicine, Atlanta, Georgia;
authors.forename: Suma
authors.initials: S
authors.lastname: Shankar
authors.affiliation: Departments of Neurology and Pediatrics, University of California at San Francisco, San Francisco, California;
authors.forename: Joseph
authors.initials: J
authors.lastname: Sullivan
authors.affiliation: Department of Counseling, Special Education and School Psychology, Youngstown State University, Youngstown, Ohio;
authors.forename: Melinda
authors.initials: M
authors.lastname: Wolford
authors.affiliation: CFC International, Vestal, New York; and.
authors.forename: Brenda
authors.initials: B
authors.lastname: Conger
authors.affiliation: CFC International, Vestal, New York; and.
authors.forename: Molly
authors.initials: M
authors.lastname: Santa Cruz
authors.affiliation: Division of Genomic Medicine, Department of Pediatrics, UC Davis MIND Institute, University of California at Davis, Sacramento, California.
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Rauen
mesh_terms: D003937:Diagnosis, Differential; D019468:Disease Management; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D019066:Facies; D005183:Failure to Thrive / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005820:Genetic Testing / Q000379:methods; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D017410:Practice Guidelines as Topic / Q000592:standards*
keywords: BRAF mutation; MEK1 mutation; MEK2 mutation; RASopathy; cardio-facio-cutaneous syndrome; management guidelines