Noonan Syndrome Differential Diagnoses

Updated: Feb 19, 2017
  • Author: Margaret M McGovern, MD, PhD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
  • Print

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