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Mandibulofacial dysostosis
rareA 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)
- Identifiers
- MONDO:0015483 Orphanet:155899
- Part of
- Dysostosis
- Also known as
- bilateral and symmetric oto-mandibular dysplasia
Subtypes
Rare disease
Projects
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