Camfak syndrome (cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome)    189

General: Autosomal recessive; there is evidence supporting that it is a neurologic disease chara 616g69g cterized by peripheral and central demyelination similar to that seen in Cockayne syndrome.

Ocular: Cataracts.

Clinical: Microcephaly; failure to thrive; mental retardation; spasticity; hip dislocation; kyphoscoliosis.

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/.

Scott-Emuakpor AB, et al. A syndrome of microcephaly and cataracts in four siblings: a new genetic syndrome. Am J Dis Child 1977; 131:167-l69.

Talwar D, Smith SA. CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne's syndrome. Am J Med Genet 1989; 34:194-98.