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Treacher Collins Syndrome Associated with Disproportionate Nervous System, Cardiovascular, Otologic Complications

Jacqueline Kloos1, David C Kaelber2

  • 1Case Western Reserve University School of Medicine, Cleveland, Ohio.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|July 7, 2023
PubMed

Insights

Patients with Treacher Collins Syndrome (TCS) have a significantly higher risk of nervous system, cardiovascular, and otologic abnormalities. These findings highlight potential gene functions and inform clinical care for individuals with TCS.

Area of Science:

  • Genetics and Developmental Biology
  • Neurology
  • Cardiology
  • Otolaryngology

Background:

  • Treacher Collins Syndrome (TCS) is a rare genetic disorder characterized by craniofacial abnormalities.
  • The specific risks of associated nervous system, cardiovascular, and otologic conditions in TCS patients are not fully elucidated.

Purpose of the Study:

  • To compare the prevalence of specific nervous system, cardiovascular, and otologic abnormalities in patients with and without Treacher Collins Syndrome.
  • To determine the relative risk of these abnormalities in individuals with TCS.

Main Methods:

  • Retrospective cohort study utilizing the TriNetX platform.
  • Analysis of aggregated, deidentified electronic health record (EHR) data from a large US patient population.
  • Propensity score matching was used to create comparable cohorts of patients with and without TCS (n=1,114 each).

Main Results:

  • Patients with TCS exhibited a significantly elevated relative risk (RR) for congenital malformations of the circulatory system (RR 8.5).
  • Higher rates of otologic abnormalities, including conductive hearing loss (RR 44), were observed in TCS patients.
  • Increased risk of nervous system disorders, such as movement disorders (RR 2.60) and recurrent seizures (RR 4.2), were also found in the TCS cohort.

Conclusions:

  • Individuals with Treacher Collins Syndrome face a substantially increased risk across nervous system, cardiovascular, and otologic systems.
  • Potential mechanisms linking TCS-associated genes to these multi-system abnormalities are proposed, involving neural crest cell development.
  • Findings underscore the importance of comprehensive monitoring and care for TCS patients, addressing associated health risks.
Abstract

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