En ärftlig sjukdom som uppträder i två former: den fullständiga (Franceschettis syndrom) kännetecknas av antimongoloid lutning av ögonlocksspringorna, kolobom (sprickbildning) i de nedre ögonlocken, mikrognati, okbågshypoplasi och onormalt små ytteröron. Den överförs autosomalt. Den ofullständiga formen (Treacher Collins syndrom) har samma särdrag, men mindre framträdande. Den förekommer sporadiskt, men en autosomalt dominant ärftlighet misstänks.
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)
Treacher Collins syndrom
Dysostoses, Mandibulofacial — Dysostosis, Mandibulofacial — Mandibulofacial Dysostoses — Treacher Collins-Franceschetti Syndrome — Syndrome, Treacher Collins-Franceschetti — Syndromes, Treacher Collins-Franceschetti — Treacher Collins Franceschetti Syndrome — Treacher Collins-Franceschetti Syndromes — 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 — Mandibulofacial Dysostosis (MFD1) — Dysostoses, Mandibulofacial (MFD1) — Dysostosis, Mandibulofacial (MFD1) — Mandibulofacial Dysostoses (MFD1) — MFD1 Mandibulofacial Dysostosis — Dysostoses, MFD1 Mandibulofacial — Dysostosis, MFD1 Mandibulofacial — MFD1 Mandibulofacial Dysostoses — Mandibulofacial Dysostoses, MFD1 — Mandibulofacial Dysostosis, MFD1