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Hmc syndrome (hypertelorism, microtia, facial clefting syndrome)


HMC Syndrome (Hypertelorism, Microtia, Facial Clefting Syndrome)

General: Developmental defect marked by an abnormally wide space between two organs or par 818i87i ts; autosomal recessive.

Ocular: Hypertelorism.

Clinical: Microtia; clefting of the lip, palate, and nose; psychomotor retardation; conductive hearing loss; mild micrognathia; microcephaly; thenar hypoplasia; ectopic kidneys; atretic auditory canals; congenital heart malformations.

Baraitser M. The hypertelorism microtia clefting syndrome. J Med Genet 1982:19:387-388.

Bixler D, et al. Hypertelorism, microtia, facial clefting: a new inherited syndrome. Birth Defects 1969; 2:77-81.

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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