Pilodental dysplasia with refractive errors (euhidrotic ectodermal dysplasia; trichodental dysplasia with hyperopia)

General: Autosomal recessive; damage to structures arising from the ectoderm.

Ocular: Hyperopia; astigmatism.

Clinical: Hypodontia; abnormally shaped teeth; scalp hypotrichosis; disorders of pigmentation of the hair; follicular hyperkeratosis on the trunk and limbs; intensified delineation and reticular hyperpigmentation of the skin of the nape; broadening of bridge and dorsum of the nose.

Kopysc Z, et al. A new syndrome in the group of euhidrotic ectodermal dysplasia: pilodental dysplasia with refractive errors. Hum Genet 1985; 70:376-378.

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/.