Kohn-romano syndrome (bpes syndrome) 6

General: Autosomal dominant transmittance; te 959j91j trad with telecanthus, ptosis, epicanthus inversus, and blepharophimosis; male preponderance; location of the abnormal gene responsible for this syndrome has been postulated to be a 3q2.

Ocular: Telecanthus; ptosis; epicanthus inversus; blepharophimoses; divergent strabismus; nystagmus; esotropia; anomalies of the lacrimal punctum; reduced corneal diameter.

Clinical: Highly arched palate; low-set ears with deformed pinnas.

de Die-Smulders CEM, et al. Further evidence for the location of the BPES gene at 3q2 [Letter]. J Med Genet 1991; 28:725.

Garden JW. Blepharophimosis, ptosis, epicanthus inversus, and lacrimal stenosis. Am J Ophthalmol 1969; 67:153.

Kohn R, Romano PE. Ptosis, blepharophimosis, epicanthus inversus, and telecanthus: the syndrome with no name. Am J Ophthalmol 1971; 72:625.

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/.