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)

Also Known As:

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

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Craniofacial Dysostosis: 243
        Mandibulofacial Dysostosis: 164
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Craniofacial Dysostosis: 243
      - Mandibulofacial Dysostosis: 164
Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Coloboma: 478
    - Mandibulofacial Dysostosis: 164
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Craniofacial Dysostosis: 243
        Mandibulofacial Dysostosis: 164

Acrofrontofacionasal dysostosis syndrome

Disease Context: Research Results