The otolaryngologic manifestations of Sotos syndrome

Int J Pediatr Otorhinolaryngol. 2013 Nov;77(11):1861-3. doi: 10.1016/j.ijporl.2013.08.029. Epub 2013 Sep 6.


Objective: Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic manifestations of Soto's syndrome. Our objective was to determine if there are additional manifestations relevant to the otolaryngologist.

Methods: We performed a retrospective case series in which the Department of Defense electronic medical record was searched for ICD 9 code 253.0 (acromegaly/gigantism). Records were reviewed for genetic testing indicative of Soto's syndrome. These records were further analyzed for evidence of otolaryngologic problems.

Results: Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome. Of these, 4/5 had otolaryngologic problems such as conductive hearing loss, aspiration, laryngomalacia, obstructive sleep apnea and sensorineural hearing loss.

Conclusions: Currently there is no description in the literature of these additional manifestations of Soto's syndrome. We present this case series to support the idea that an otolaryngologist should be involved in the multidisciplinary care required for these patients.

Keywords: NSD1; Pediatric otolaryngology; Sotos syndrome.

MeSH terms

  • Adolescent
  • Age Distribution
  • Causality
  • Child
  • Child, Preschool
  • Cohort Studies
  • Comorbidity
  • Databases, Factual
  • Female
  • Genetic Predisposition to Disease / epidemiology*
  • Hearing Loss, Conductive / epidemiology
  • Hearing Loss, Conductive / physiopathology
  • Hearing Loss, Sensorineural / epidemiology
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Incidence
  • Laryngomalacia / epidemiology
  • Laryngomalacia / physiopathology
  • Male
  • Otorhinolaryngologic Diseases / epidemiology*
  • Otorhinolaryngologic Diseases / genetics
  • Pneumonia, Aspiration / epidemiology
  • Pneumonia, Aspiration / physiopathology
  • Prognosis
  • Retrospective Studies
  • Risk Assessment
  • Severity of Illness Index
  • Sex Distribution
  • Sleep Apnea, Obstructive / epidemiology
  • Sleep Apnea, Obstructive / physiopathology
  • Sotos Syndrome / diagnosis
  • Sotos Syndrome / epidemiology*
  • Sotos Syndrome / genetics