Noonan Syndrome Differential Diagnoses

Updated: Apr 22, 2022
  • Author: Margaret M McGovern, MD, PhD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

These include the following:

  • Costello syndrome

  • Craniofaciocutaneous syndrome

  • Fetal hydantoin syndrome

  • Lentigines, electrocardiographic (conduction abnormalities), ocular (hypertelorism), pulmonary (stenosis), abnormal (genitalia), retardation (of growth), and deafness (LEOPARD) syndrome

  • XO/XY mosaicism

  • Turner syndrome

  • Neurofibromatosis type 1

  • SPRED1 spectrum

Differential Diagnoses