Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review

Am J Speech Lang Pathol. 2024 Jan 3;33(1):485-504. doi: 10.1044/2023_AJSLP-23-00152. Epub 2023 Nov 6.


Introduction: Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.

Method: All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework ( and published elsewhere.

Results: Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.

Conclusions: Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.

Supplemental material:

Publication types

  • Systematic Review
  • Review
  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Communication Disorders*
  • Goldenhar Syndrome* / complications
  • Goldenhar Syndrome* / diagnosis
  • Humans
  • Phenotype
  • Speech
  • Speech Disorders / diagnosis
  • Speech Disorders / etiology
  • United States