Corneo-Dermato-Osseous Syndrome
Corneo-Dermato-Osseous Syndrome (CDO Syndrome; Corneal Dystrophy, Epithelial with Skin and Skeletal Changes)
General: Autosomal dominant; similar lesions of palms, soles, and cornea occur III Richner-Hanhart syndrome.
Ocular: Epithelial and stromal corneal changes; photophobia; keratoconus.
Clinical: Palmoplantar hyperkeratosis; brachydactyly, short stature; premature birth; soft teeth.
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: http://www.ncbi.nlm.nih.gov/omim/.
Stern JK, et al. Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. Am J Med Genet 1984; 18:67-77.
General: Autosomal dominant; similar lesions of palms, soles, and cornea occur III Richner-Hanhart syndrome.
Ocular: Epithelial and stromal corneal changes; photophobia; keratoconus.
Clinical: Palmoplantar hyperkeratosis; brachydactyly, short stature; premature birth; soft teeth.
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: http://www.ncbi.nlm.nih.gov/omim/.
Stern JK, et al. Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. Am J Med Genet 1984; 18:67-77.
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