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Current opinions on Noonan syndrome and RASopathies

Kathryn Nicole Weaver1,2,3, Carlos E Prada4,5

  • 1The Heart Institute, Cincinnati Children's Hospital Medical Center.

Current Opinion in Pediatrics
|November 13, 2025
PubMed

Insights

Noonan syndrome and related disorders (RASopathies) impact many children. Recent advances include targeted therapies like trametinib for severe symptoms and better understanding of genotype-phenotype correlations and neurologic issues.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Pharmacology

Background:

  • Noonan syndrome and related disorders (RASopathies) are genetic conditions affecting approximately 1 in 2000 individuals.
  • These disorders present with diverse phenotypic manifestations, requiring recognition by pediatric providers.
  • Understanding RASopathies is crucial for timely diagnosis and management.

Purpose of the Study:

  • To review recent advancements in the diagnosis and treatment of RASopathies.
  • To inform pediatricians and subspecialists about common diagnostic features and emerging therapies.
  • To highlight the importance of recognizing RASopathy diagnoses in clinical practice.

Main Methods:

  • Review of major research articles published on RASopathies in the past 18 months.
  • Analysis of studies focusing on pathway-targeted drugs, genotype-phenotype correlations, and neurologic manifestations.
  • Synthesis of findings related to diagnosis, natural history, and treatment endpoints.

Main Results:

  • Pathway-targeted drugs, such as trametinib, show promise for refractory cardiac and lymphatic manifestations.
  • Emerging genotype-phenotype correlations are refining the understanding of these disorders.
  • Detailed characterization of neurologic manifestations is a significant area of recent research.

Conclusions:

  • Pathway-targeted therapy, exemplified by trametinib use, underscores the need for accurate RASopathy diagnosis.
  • Further refinement of genotype-phenotype correlations is essential for personalized treatment.
  • Continued research into the phenotypic spectrum, especially neurologic aspects, will drive future knowledge growth.
Abstract

Keywords:
Costello syndromeNoonan syndromeRASopathiescardiofaciocutaneous syndrome

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