Otolaryngologic manifestations of Noonan syndrome

Ear Nose Throat J. 2015 Sep;94(9):E4-6.


Noonan syndrome is an autosomal dominant disorder with associated anomalies that include short stature, congenital heart defects, developmental delay, and characteristic facial features among other abnormalities. Articulation deficiency and language delay are often present and require speech therapy. Otitis media and hearing loss have been reported to be common in these patients. We performed a retrospective chart review of pediatric patients who were diagnosed with Noonan syndrome at our tertiary care center from January 1979 through December 2009. We found 19 such patients. Of these, 8 had received single-specialty care at our hospital; it is not known if they had received otolaryngologic care from an outside provider. These 8 patients were not included in our study. The remaining 11 patients-6 boys and 5 girls, aged 1 to 19 years (mean: 9.2)-had all received multidisciplinary care at our institution; 9 of them had received care from an otolaryngologist at our center. Of this group, 7 had history of feeding difficulty, 6 had experienced speech delay that required speech therapy, 6 had undergone placement of a pressure equalization tube, 4 had undergone adenoidectomy with or without tonsillectomy, and 1 had been treated with endoscopic sinus surgery. Although this study is limited by our small number of patients, our results suggest that early otolaryngologist involvement must be considered in the care of children with Noonan syndrome because many have evidence of eustachian tube dysfunction, hearing loss, and speech delay.

MeSH terms

  • Adenoidectomy
  • Adolescent
  • Blood Coagulation Disorders / diagnosis
  • Child
  • Child, Preschool
  • Eustachian Tube / physiopathology
  • Feeding and Eating Disorders / diagnosis
  • Female
  • Hearing Loss, Conductive / diagnosis
  • Humans
  • Infant
  • Language Development Disorders / diagnosis
  • Language Development Disorders / therapy
  • Male
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics
  • Otorhinolaryngologic Diseases / diagnosis*
  • Otorhinolaryngologic Diseases / genetics
  • Otorhinolaryngologic Diseases / physiopathology
  • Otorhinolaryngologic Diseases / therapy
  • Retrospective Studies
  • Tonsillectomy
  • Young Adult