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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)

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Tree Number(s): C05.116.099.370.231.576, C05.660.207.231.576, C11.270.147.750, C16.131.621.207.231.576

MeSH Unique ID: D008342

Entry Terms:

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

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