Last reviewed: November 2017
Last updated: September  2016

Summary

Definition

History and exam

Key diagnostic factors

  • positive FHx
  • short stature
  • dysmorphic facial features
  • cryptorchidism
  • cardiac anomalies
  • lymphoedema
  • delayed puberty
  • easy bruising or bleeding
  • pigmentary anomalies
  • sparse or absent eyebrows and lashes
  • splenomegaly

Other diagnostic factors

  • abnormalities identified antenatally
  • chest deformity
  • developmental delay/learning difficulty
  • skeletal anomalies
  • muscle weakness
  • hx of renal malformation

Risk factors

  • FHx of NS
  • advanced paternal age

Diagnostic investigations

Investigations to consider

  • FBC
  • coagulation profile
  • molecular genetic testing
  • abdominal ultrasound
  • renal ultrasound
Full details

Treatment algorithm

ACUTE

Contributors

Authors VIEW ALL

Associate Professor

Department of Pediatrics

Division of Medical Genetics

Stanford University

Stanford

CA

Disclosures

DAS has acted as a consultant for Alexion, Lineagen, and GLG. DAS is an author of a reference cited in this monograph.

Dr David A. Stevenson would like to gratefully acknowledge Dr Judith E. Allanson, the previous contributor to this monograph. JEA is an author of a number of references cited in this monograph.

Peer reviewers VIEW ALL

Chief

Endocrine Research Department

Instituto de Investigaciones Médicas Alfredo Lanari

IDIM-CONICET

University of Buenos Aires

Argentina

Disclosures

LNC declares that she has no competing interests.

Professor of Pediatrics

Mount Sinai School of Medicine

New York

NY

Disclosures

BG received royalties from GeneDx, Correlegan, Preventative Genetics, Baylor College of Medicine, and Harvard Medical School/Partners for genetic testing of Noonan syndrome. BG is an author of a number of references cited in this monograph.

Professor Emeriti

Department of Pediatrics

College of Medicine

University of Kentucky

Lexington

KY

Disclosures

JN is on the Noonan Syndrome Advisory Board for Novo Nordisk and has received payment for speaking at a symposium. JN is an author of a number of references cited in this monograph.

Use of this content is subject to our disclaimer