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neurofibromatosis-Noonan syndrome

MeSH: C537393ORPHA: 638

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with neurofibromatosis-Noonan syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the faceHypertelorismWebbed neckDownslanted palpebral fissuresPtosisSpecific learning disabilityHypertrophic cardiomyopathyPulmonic stenosisShort statureMultiple cafe-au-lait spotsAbdominal wall muscle weaknessAbnormal helix morphologyCryptorchidismAbnormal thorax morphologyDysphagiaProlonged bleeding timeAbnormality of the lymphatic systemPosteriorly rotated ears

Classification & Codes

MeSH Code

C537393

Orphanet Code

ORPHA:638
neurofibromatosis-Noonan syndrome
MeSHC537393
OrphanetORPHA:638
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO