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Concept information

Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Craniofacial Dysostosis > Mandibulofacial Dysostosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Craniofacial Dysostosis > Mandibulofacial Dysostosis
... > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Craniofacial Dysostosis > Mandibulofacial Dysostosis
Eye Diseases > Eye Abnormalities > Coloboma > Mandibulofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Eye Abnormalities > Coloboma > Mandibulofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Coloboma > Mandibulofacial Dysostosis
Eye Diseases > Eye Diseases, Hereditary > Coloboma > Mandibulofacial Dysostosis

Terme préférentiel

Mandibulofacial Dysostosis  

Type

  • mesh:Descriptor

Définition

  • 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 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)

Concept générique

Concepts spécifiques

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

  • Dysostose mandibulofaciale

    français

  • Dysostose mandibulo-faciale
  • Syndrome de Franceschetti
  • Syndrome de Franceschetti-Klein
  • Syndrome de Treacher-Collins

URI

http://data.loterre.fr/ark:/67375/JVR-QLK6K91B-Z

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2018