mandibulofacial dysostosis
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 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)
MONDO:0024623
otorhinolaryngologic disease
excluded_subClassOf
MONDO:0018234
dysostosis
is_a
bilateral and symmetric oto-mandibular dysplasia
exact
SPBC1289.07c SPAC1687.01 SPBP23A10.07