Goltz syndrome (focal dermal hypoplasia syndrome)

General: X-linked dominant inheritance; lethal in males; skin manifestations pres 616f56g ent at birth.

Ocular: Microphthalmia; strabismus; coloboma of iris and/or choroid; epiphora; blue sclera; nystagmus; anophthalmos; keratoconus.

Clinical: Skin atrophy and linear pigmentation; telangiectasias of trunk and extremities; superficial, localized fatty skin deposits; multiple papillomas of mucous membranes and periorificial skin (oral, genital, anal); anomalies of extremities with syndactyly, oligodactyly, adactyly; hypohidrosis; paper-thin nails may be present; spina bifida; hypoplasia of right clavicle; umbilical or inguinal hernia.

Goltz RW, et al. Focal dermal hypoplasia. Arch Dermatol

Gorski JL. Father to daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X-chromosome mosaicism. Am J Med Genet 1991; 40:332-337.

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/.

Thomas JV, et al. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol 1977; 95: 1997-2001.

Willetts GS. Focal dermal hypoplasia. Br J Ophthalmol 1974; 58:620-624.