Noonan syndrome: clinical features, diagnosis, and management guidelines.
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.
Romano
Alicia A
AA
Department of Pediatrics, Munger Pavilion, Room 123, New York Medical College, Valhalla, NY 10595, USA. alicia.romano@mac.com
Allanson
Judith E
JE
Dahlgren
Jovanna
J
Gelb
Bruce D
BD
Hall
Bryan
B
Pierpont
Mary Ella
ME
Roberts
Amy E
AE
Robinson
Wanda
W
Takemoto
Clifford M
CM
Noonan
Jacqueline A
JA
D006801:Humans; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy