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Maxillofacial Dysostosis

Abstract

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NORD is very grateful to James Reynolds, MD, FAAP, FACMG, Medical Geneticist, Shodair Children's Hospital, for assistance in the preparation of this report.

Synonyms of Maxillofacial Dysostosis

  • autosomal dominant maxillofacial dysostosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Maxillofacial dysostosis is an extremely rare genetic disorder characterized by distinctive abnormalities of the head and face (craniofacial) area. Major symptoms include an underdeveloped (hypoplasia) upper jaw, downward-slanting palpebral fissures (which means that the opening between the eyelids slants downward), minor malformations of the external portion of the ears, and speech abnormalities. Maxillofacial dysostosis is inherited as an autosomal dominant trait. A second (distinct) form of maxillofacial dysostosis is believed to be inherited as an X-linked recessive trait.

Organizations related to Maxillofacial Dysostosis

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