Palpebral Coloboma-Lipoma Syndrome (Nasopalpebral Lipoma-Coloboma)
General: Autosomal dominant; described in a Venezuelan family.
Ocular: Coloboma of upper and lower lids 727f58h at junction between their middle and inner thirds; fat deposits of both upper lids; malposition of lacrimal puncta; hypertelorism; telecanthus.
Clinical: Broad nasal bridge; fatty accumulations on nasal bridge and nasolabial area; maxillary hypoplasia.
Akarsu AN, Sayli BS. Nasopalpebral lipoma-coloboma syndrome. Clin Genet 1991; 30:342-344.
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/.
Penchaszadeh VB, et al. The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. Am J Med Genet 1982; 11:397-410.
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