Cardio-facio-cutaneous syndrome

Clinical features, diagnosis, and management guidelines

Mary Ella M. Pierpont, Pilar L. Magoulas, Saleh Adi, Maria Ines Kavamura, Giovanni Neri, Jacqueline Noonan, Elizabeth I. Pierpont, Kent Reinker, Amy E. Roberts, Suma Shankar, Joseph Sullivan, Melinda Wolford, Brenda Conger, Molly Santa Cruz, Katherine A Rauen

Research output: Contribution to journalReview article

54 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)e1149-e1162
JournalPediatrics
Volume134
Issue number4
DOIs
StatePublished - 2014

Fingerprint

Guidelines
Costello Syndrome
Noonan Syndrome
Family Health
Long-Term Care
Cardiofaciocutaneous syndrome
Mitogen-Activated Protein Kinases
Practice Guidelines
Intellectual Disability
Heart Diseases
Consensus
Medicine
Organizations
Delivery of Health Care
Recurrence
Mutation
Growth
Research
Genes

Keywords

  • Braf mutation
  • Cardio-facio-cutaneous syndrome
  • Management guidelines
  • Mek1 mutation
  • Mek2 mutation
  • RASopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Pierpont, M. E. M., Magoulas, P. L., Adi, S., Kavamura, M. I., Neri, G., Noonan, J., ... Rauen, K. A. (2014). Cardio-facio-cutaneous syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics, 134(4), e1149-e1162. https://doi.org/10.1542/peds.2013-3189

Cardio-facio-cutaneous syndrome : Clinical features, diagnosis, and management guidelines. / Pierpont, Mary Ella M.; Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Cruz, Molly Santa; Rauen, Katherine A.

In: Pediatrics, Vol. 134, No. 4, 2014, p. e1149-e1162.

Research output: Contribution to journalReview article

Pierpont, MEM, Magoulas, PL, Adi, S, Kavamura, MI, Neri, G, Noonan, J, Pierpont, EI, Reinker, K, Roberts, AE, Shankar, S, Sullivan, J, Wolford, M, Conger, B, Cruz, MS & Rauen, KA 2014, 'Cardio-facio-cutaneous syndrome: Clinical features, diagnosis, and management guidelines', Pediatrics, vol. 134, no. 4, pp. e1149-e1162. https://doi.org/10.1542/peds.2013-3189
Pierpont MEM, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J et al. Cardio-facio-cutaneous syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2014;134(4):e1149-e1162. https://doi.org/10.1542/peds.2013-3189
Pierpont, Mary Ella M. ; Magoulas, Pilar L. ; Adi, Saleh ; Kavamura, Maria Ines ; Neri, Giovanni ; Noonan, Jacqueline ; Pierpont, Elizabeth I. ; Reinker, Kent ; Roberts, Amy E. ; Shankar, Suma ; Sullivan, Joseph ; Wolford, Melinda ; Conger, Brenda ; Cruz, Molly Santa ; Rauen, Katherine A. / Cardio-facio-cutaneous syndrome : Clinical features, diagnosis, and management guidelines. In: Pediatrics. 2014 ; Vol. 134, No. 4. pp. e1149-e1162.
@article{7a166ed51b294759acaae273c9c85b44,
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.",
keywords = "Braf mutation, Cardio-facio-cutaneous syndrome, Management guidelines, Mek1 mutation, Mek2 mutation, RASopathy",
author = "Pierpont, {Mary Ella M.} and Magoulas, {Pilar L.} and Saleh Adi and Kavamura, {Maria Ines} and Giovanni Neri and Jacqueline Noonan and Pierpont, {Elizabeth I.} and Kent Reinker and Roberts, {Amy E.} and Suma Shankar and Joseph Sullivan and Melinda Wolford and Brenda Conger and Cruz, {Molly Santa} and Rauen, {Katherine A}",
year = "2014",
doi = "10.1542/peds.2013-3189",
language = "English (US)",
volume = "134",
pages = "e1149--e1162",
journal = "Pediatrics",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "4",

}

TY - JOUR

T1 - Cardio-facio-cutaneous syndrome

T2 - Clinical features, diagnosis, and management guidelines

AU - Pierpont, Mary Ella M.

AU - Magoulas, Pilar L.

AU - Adi, Saleh

AU - Kavamura, Maria Ines

AU - Neri, Giovanni

AU - Noonan, Jacqueline

AU - Pierpont, Elizabeth I.

AU - Reinker, Kent

AU - Roberts, Amy E.

AU - Shankar, Suma

AU - Sullivan, Joseph

AU - Wolford, Melinda

AU - Conger, Brenda

AU - Cruz, Molly Santa

AU - Rauen, Katherine A

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Braf mutation

KW - Cardio-facio-cutaneous syndrome

KW - Management guidelines

KW - Mek1 mutation

KW - Mek2 mutation

KW - RASopathy

UR - http://www.scopus.com/inward/record.url?scp=84925545671&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84925545671&partnerID=8YFLogxK

U2 - 10.1542/peds.2013-3189

DO - 10.1542/peds.2013-3189

M3 - Review article

VL - 134

SP - e1149-e1162

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 4

ER -