Treacher Collins Syndrome in the United States: Examining Incidence and Inpatient Interventions

Cleft Palate Craniofac J. 2021 Nov;58(11):1438-1442. doi: 10.1177/1055665621998138. Epub 2021 Mar 31.


Objective: Advancements have been made in the care of patients with Treacher Collins syndrome (TCS), but epidemiological data are lacking given its rarity. A national database provides a valuable opportunity for studying the incidence of rare craniofacial conditions. We sought to evaluate disease incidence of phenotypically severe cases and the frequency of the most common associated diagnoses and interventions.

Design: The 2016 Kids' Inpatient Database (KID), Healthcare Cost and Utilization Project, Agency for Healthcare Research and Quality was the first version to include updated International Classification of Diseases-Tenth Edition (ICD-10) coding encompassing a unique code for TCS. The 2016 KID was queried for the unique code. Incidence was calculated using national estimates. Diagnosis and procedure codes were pooled and analyzed.

Patients: A total of 266 discharge cases with a diagnosis code for TCS (Q75.4).

Main outcomes: Disease incidence and the most frequent diagnosis and procedure codes.

Results: The estimated incidence of children born with a diagnosis of TCS was approximately 1 in 80,000. Two of the three most common ICD-10 diagnosis codes were tracheostomy status and obstructive sleep apnea. The most common procedures performed were airway examination procedures.

Conclusions: Treacher Collins syndrome is a rare craniofacial disorder requiring complex multidisciplinary management. Phenotypically severe cases requiring inpatient management may be rarer than previous estimates suggest. Inpatient airway interventions are very common, and multidisciplinary team members should anticipate the degree of potential airway risk these patients pose.

Keywords: airway obstruction; craniofacial morphology; epidemiology; pediatrics.

MeSH terms

  • Child
  • Databases, Factual
  • Humans
  • Incidence
  • Inpatients
  • Mandibulofacial Dysostosis* / epidemiology
  • Mandibulofacial Dysostosis* / therapy
  • Sleep Apnea, Obstructive*
  • United States / epidemiology