Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Craniofacial Dysostosis Terms and Definitions

Craniofacial Dysostosis

Medical Definition:	An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. (Dorland, 27th ed)
Guide Notes:	do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; "craniofacial dysmorphism" does not go here: index under FACIAL BONES /abnorm + SKULL /abnorm but not also under ABNORMALITIES, MULTIPLE

Craniofacial Dysostosis Categories.

	Hallermann's Syndrome - An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed)
	Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
	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)

Craniofacial Dysostosis Medical Definitions and Terms

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