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Disease Mandibulofacial Dysostosis

Name Mandibulofacial Dysostosis
Synonyms Collins Syndrome, Treacher | Dysostoses, Mandibulofacial | Dysostosis, Mandibulofacial | Franceschetti-Zwahlen-Klein Syndrome | Mandibulofacial Dysostoses | MANDIBULOFACIAL DYSOSTOSIS | Mandibulofacial Dysostosis (MFD1) | MFD1 | Syndrome, Treacher Collins | TCOF | TCS | TCS1 | Treacher Collins-Franceschetti Syndrome | Treacher Collins Syndrome | TREACHER COLLINS SYNDROME 1
Definition A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and 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)
Categories Congenital abnormality | Musculoskeletal disease
MeSH® ID D008342
OMIM® ID 154500
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Dysostoses Has associated chemicals Has associated genes Craniofacial Dysostosis Has associated chemicals Has associated genes Mandibulofacial Dysostosis Has associated chemicals Has associated genes
2. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Dysostosis Has associated chemicals Has associated genes Mandibulofacial Dysostosis Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Dysostosis Has associated chemicals Has associated genes Mandibulofacial Dysostosis Has associated chemicals Has associated genes

Top ↑ Descendants

Mandibulofacial Dysostosis Has associated chemicals Has associated genes
  Acrofacial dysostosis Catania form
  ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE Has associated chemicals Has associated genes
  Acrofacial dysostosis, Nager type Has associated chemicals Has associated genes
  Acrofacial dysostosis, Palagonia type
  Acrofacial dysostosis Rodriguez type
  Acrofrontofacionasal dysostosis syndrome
  Acromelic Frontonasal Dysostosis Has associated chemicals Has associated genes
  Branchial arch syndrome X-linked
  DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS Has associated chemicals Has associated genes
  Fara Chlupackova syndrome
  Genee-Wiedemann syndrome Has associated chemicals Has associated genes
View node Goldenhar Syndrome Has associated chemicals Has associated genes
  Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
  MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE Has associated chemicals Has associated genes
  Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Has associated chemicals Has associated genes
  MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Has associated chemicals Has associated genes
  Mandibulofacial Dysostosis with Mental Deficiency
  Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant
  Opitz Reynolds Fitzgerald syndrome
View node Patterson Stevenson syndrome Has associated chemicals Has associated genes
  Richieri Costa Guion-Almeida syndrome
  TREACHER COLLINS SYNDROME 2 Has associated chemicals Has associated genes