Noonan syndrome.

Jan 2013

Roberts AE, Allanson JE, Tartaglia M, Gelb BD.

Source

Department of Cardiology and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA. amy.roberts@cardio.chboston.org

Abstract

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.

Science Direct

See also:

Noonan's Syndrome