Diseases

Mandibulofacial Dysostosis

A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)

MeSH Record

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MeSH Record

Synonyms

25 entry terms
  • Franceschetti-Zwahlen-Klein Syndrome
  • Treacher Collins Syndrome
  • Treacher Collins-Franceschetti Syndrome
  • Dysostoses, Mandibulofacial
  • Dysostosis, Mandibulofacial
  • Franceschetti Zwahlen Klein Syndrome
  • Franceschetti-Zwahlen-Klein Syndromes
  • Mandibulofacial Dysostoses
  • Syndrome, Franceschetti-Zwahlen-Klein
  • Syndrome, Treacher Collins
  • Syndrome, Treacher Collins-Franceschetti
  • Syndromes, Franceschetti-Zwahlen-Klein
  • Syndromes, Treacher Collins-Franceschetti
  • Treacher Collins Franceschetti Syndrome
  • Treacher Collins-Franceschetti Syndromes
  • MFD1 Mandibulofacial Dysostosis
  • Mandibulofacial Dysostosis (MFD1)
  • Dysostoses, MFD1 Mandibulofacial
  • Dysostoses, Mandibulofacial (MFD1)
  • Dysostosis, MFD1 Mandibulofacial
  • Dysostosis, Mandibulofacial (MFD1)
  • MFD1 Mandibulofacial Dysostoses
  • Mandibulofacial Dysostoses (MFD1)
  • Mandibulofacial Dysostoses, MFD1
  • Mandibulofacial Dysostosis, MFD1

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Hierarchy

Tree Numbers

  1. C05w.116w.099.370w.231w.576w
  2. C05w.660w.207w.231w.576w
  3. C11w.270.147w.750w
  4. C16w.131w.621w.207w.231w.576w

MeSH Record

NLM Classification

WE 705

AMA Style

References

  1. National Library of Medicine. Mandibulofacial Dysostosis. Medical Subject Headings (MeSH). 2026. Unique ID D008342. http://id.nlm.nih.gov/mesh/2026/D008342
  2. Mandibulofacial Dysostosis. In: Wikipedia. https://en.wikipedia.org/wiki/Treacher_Collins_syndrome
  3. Mandibulofacial Dysostosis. In: Wikidata. https://www.wikidata.org/wiki/Q744790