Menkes (2) syndrome (kinky hair syndrome) 7

General: Etiology unknown; sex-linked recessive neurodegenerative disorder; 717d32h focal cerebral and cerebellar degenerative changes involving the white and gray matter; affects only males; onset in early infancy.

Ocular: Decreasing visual function with progression of the disease.

Clinical: Spasticity; refractory motor seizures; retarded growth; dementia; abnormal pigmentation of hair with kinky, wiry texture; lack of facial expression; thick and dry skin; transient jaundice.

Levy NS, et al. Ocular abnormalities in Menkes' kinky hair syndrome. Am J Ophthalmol 1974; 77:319.

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/.

Menkes JH, et al. A sex linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962; 29:764.

Seelenfreund MH. The ocular pathology of Menkes' disease. Arch Ophthalmol 1968; 80:718.

Tuppurainen K, et al. Ophthalmological findings in a girl with Menkes-like disease. Graefes Arch Clin Exp Ophthalmol 1994; 232:445-447.

Welby J, et al. Isolation of a candidate gene for Menkes' disease that encodes a potential heavy metal binding protein. Nat Genet 1993; 3:14-l9.