[The Noonan syndrome from a pediatric perspective]

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Updated: Sep 26, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

C Noordam1, G Thoonen, C J A M van der Burgt

  • 1Afd. Kinderendocrinologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. c.noordam@cukz.umcn.nl

Nederlands Tijdschrift Voor Geneeskunde
|April 26, 2003
PubMed

Insights

Noonan syndrome is a genetic disorder causing heart defects and short stature. While early feeding issues resolve, learning and behavioral problems require specific management.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Context:

  • Noonan syndrome is an autosomal dominant disorder.
  • Characterized by cardiac defects, short stature, and developmental issues.
  • PTPN11 gene mutations confirm diagnosis in 50% of cases.

Purpose:

  • To summarize the key features and management considerations for Noonan syndrome.
  • To highlight diagnostic criteria and genetic basis.
  • To discuss treatment efficacy and developmental outcomes.

Summary:

  • Noonan syndrome presents with cardiac defects, short stature, and early feeding difficulties, often resolving spontaneously.
  • Later developmental challenges include learning and behavioral problems, specifically non-verbal learning disability.
  • Diagnosis is clinical, with PTPN11 gene mutations identified in half of affected individuals.

Impact:

  • Provides a concise overview for clinicians and researchers.
  • Emphasizes the need for tailored approaches to developmental and behavioral issues.
  • Highlights the current limitations in growth hormone treatment efficacy, recommending research settings.

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