Noonan syndrome: Clinical features, diagnosis, and management guidelines

Alicia A. Romano, Judith E. Allanson, Jovanna Dahlgren, Bruce D. Gelb, Bryan Hall, Mary Ella Pierpont, Amy E. Roberts, Wanda Robinson, Clifford M. Takemoto, Jacqueline A. Noonan

Research output: Contribution to journalReview articlepeer-review

385 Scopus citations

Abstract

Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.

Original languageEnglish
Pages (from-to)746-759
Number of pages14
JournalPediatrics
Volume126
Issue number4
DOIs
StatePublished - Oct 2010

Keywords

  • BRAF
  • Congenital heart disease
  • KRAS
  • NRAS
  • Noonan syndrome
  • PTPN11
  • RAF1
  • Ras/MAPK signal transduction
  • SHOC2
  • SOS1
  • Short stature

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