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Microcephaly, microphthalmia, cataracts, and joint contractures


Microcephaly, Microphthalmia, Cataracts, and Joint Contractures

General: Autosomal dominant; ocular features like Hagberg-Santavuori syndrome.

Ocular: Microphthalmia; cataracts; hypopigmented retinal degeneration.

Clinical: Microcephaly; shortening or wasting of muscle fibers, causing excess scar tissue over joints.

Bateman JB, et al. Ocular features of Hagberg-Santavuori syndrome. Am J Ophthalmol 1986; 102:262-271.



McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th 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/.




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