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Treacher Collins Syndrome

Treacher Collins Syndrome - Manual PubMed Research

Manual MONDO:0002457

Treacher Collins Syndrome - Manual PubMed Research

Research Method

Manual literature search via PubMed E-utilities API (no deep research API keys available).

Key References

  1. PMID:20301704 - Barbosa M, Jabs EW, Huston S (2024 update). GeneReviews: Treacher Collins Syndrome.
  2. Comprehensive clinical review covering clinical characteristics, genetics, management, and genetic counseling.

  3. Key source for clinical features, diagnostic criteria, and management guidelines.

  4. PMID:34573374 - Marszałek-Kruk BA et al. (2021). Treacher Collins Syndrome: Genetics, Clinical Features and Management.

  5. Review covering genetics, phenotype, and surgical management.

  6. Source for prevalence (1 in 50,000) and four subtypes.

  7. PMID:33804586 - Grzanka M, Piekiełko-Witkowska A (2021). The Role of TCOF1 Gene in Health and Disease.

  8. Full-text review of TCOF1/Treacle function in ribosome biogenesis.

  9. Key source for molecular pathophysiology.

  10. PMID:24690222 - Kadakia S et al. (2014). Treacher Collins Syndrome: the genetics of a craniofacial disease.

  11. Review of genetics and pathophysiology.
  12. Key source for ribosome biogenesis → p53-dependent apoptosis mechanism.

Key Facts

  • MONDO:0002457
  • Incidence: ~1 in 50,000 live births
  • Inheritance: Autosomal dominant (TCOF1, POLR1B, POLR1D) or autosomal recessive (POLR1C, POLR1D biallelic)
  • 55-61% of AD cases are de novo
  • TCOF1 mutations account for >90% of cases
  • Pathomechanism: Impaired ribosome biogenesis → p53-dependent neural crest cell apoptosis → craniofacial skeletal hypoplasia
  • Core features: Malar hypoplasia, micrognathia, downslanted palpebral fissures, lower eyelid coloboma, microtia, conductive hearing loss
  • Intellect typically normal