Morgagni syndrome (hyperostosis frontalis interna syndrome; intracranial exostosis; metabolic craniopathy)

General: Dominant inheritance; onset around age 45 years; occurs almost exclusively in females. Cataract; optic nerve injury within the optic canal by bony protrusions, with resulting blindness.

Clinical: Hyperostosis frontalis interna; obesity (mainly trunk and proximal portions of limbs); hirsutism; menstrual disorders; hypertension; arteriosclerosis; headache; hypertrichosis; no case of male-to-male transmission is known; hyperprolactinemia.

Falconer MA, Pierard BE. Failing vision caused by a bony spike compressing the optic nerve within the optic canal. Report of two cases associated with Morgagni's syndrome benefited by operation. Br J Ophthalmol 1950; 34:265.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Morgagni GB. De Sedibus et Causis Morborum Peranatomen Indagatis Libri Quinque (2 volumes). Venetiis: Typog. Remondiniana, 1761. Alexander B, English translation, 3 volumes. London, 1769. (Selections in Med Classics 1940; 4:640).

Pawlikowsky M, et al. Hyperostosis frontalis, galactorrhea, hyperprolactinemia, and Morgani-Stewart-Morel syndrome [Letter]. Lancet 1983; 1:474.