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Noonan syndrome: clinical features, diagnosis, and management guidelines

Journal article
Authors A. A. Romano
J. E. Allanson
Jovanna Dahlgren
B. D. Gelb
B. Hall
M. E. Pierpont
A. E. Roberts
W. Robinson
C. M. Takemoto
J. A. Noonan
Published in Pediatrics
Volume 126
Issue 4
Pages 746-759
ISSN 0031-4005
Publication year 2010
Published at
Pages 746-759
Language en
Keywords Humans, *Noonan Syndrome/diagnosis/genetics/therapy
Subject categories Medical and Health Sciences

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 approximately 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.

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