Franceschetti syndrome. Definition

Medical Definition: Franceschetti syndrome

Mandibulofacial dysostosis. With a higher prevalence in Caucasians and with autosomal dominant inheritance pattern. Is due to a disturbance during the development of the embryo in its first gill arch. It is characterized by hypoplasia and flattening of the cheek bones and chin hypoplasia, deafness (hearing loss of transmission), location of the palpebral Antimongoloid with coloboma more or less marked, flattening of the frontonasal angle and different ear malformations, the CAE is often stenotic or atretic and their intelligence is normal. Also called Treacher Collins syndrome.

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