The otolaryngologic manifestations of Sotos syndrome 1: A systematic review

Int J Pediatr Otorhinolaryngol. 2021 Apr:143:110649. doi: 10.1016/j.ijporl.2021.110649. Epub 2021 Feb 12.


Objectives: Sotos syndrome 1 (SOTOS1; MIM:117550) is rare genetic disorder characterized by excessive physical growth before and after birth, distinctive facial features, a large and elongated head, and intellectual disability (Sotos et al., 1964; Tatton-Brown et al., 1993). This systematic review aims to determine otolaryngologic conditions and complications of SOTOS1 based on existing literature through a review of current and past case reports and studies regarding SOTOS1.

Methods: A systematic review of all published literature (1964-2020) describing otolaryngologic conditions and/or complications of patients with SOTOS1. Twenty journal articles met inclusion criteria. These articles included 160 patients diagnosed with SOTOS1.

Results: Of the 160 individuals with SOTOS1 included in this review, 22 (14%) were reported to have otologic conditions. 4 (3%) individuals were reported to have conditions involving the thyroid and parathyroid glands. 2 (1%) individuals were reported to have head & neck tumors. 39 (24%) individuals were reported to have congenital malformations or abnormalities of the head & neck. 47 (29%) individuals were reported to have feeding difficulties. 16% of individuals were reported to have other otolaryngologic conditions.

Conclusions: Our review found multiple otolaryngologic conditions present in patients with SOTOS1, including hearing loss, otitis, hyperthyroidism, hypothyroidism, head & neck tumors, congenital malformations (high arched palate, cleft lip and palate, macroglossia), feeding difficulties, respiratory difficulties, and speech disorders. Additional studies should be conducted to further assess these associations.

Keywords: Cerebral gigantism; Congenital; NSD1 gene; Pediatric otolaryngology; SOTOS1; Sotos syndrome.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Cleft Lip*
  • Cleft Palate*
  • Deafness*
  • Humans
  • Intellectual Disability*
  • Sotos Syndrome* / diagnosis
  • Sotos Syndrome* / epidemiology