Rosenthal-kloepfer syndrome 1

General: Autosomal dominant; unilateral or bilateral; ons 545g62f et in early childhood; hyperplasia and furrowing of skin, especially of face and scalp, beginning about the fourth decade of life; etiology unknown; affects both sexes.

Ocular: Prominent lateral aspect of the supraorbital arch of the frontal bone; corneal leukomas (initially superficial stromal infiltrations that develop to thick and dense corneal opacities).

Clinical: Acromegaly; thickening of the bony skull; prominent lower jaw; skin changes (with verticis gyrata); abnormal ridges and creases of the palms.

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/.

Rosenthal JW, Kloepfer HW An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. A new medical entity. Arch Ophthalmol 1962; 68:722.