Medical Definition of Keratitis-ichthyosis-deafness syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Keratitis-ichthyosis-deafness syndrome: An inherited disorder that is characterized by keratitis (gradual destruction of the cornea of the eye, sometimes leading to blindness), ichthyosis (localized areas of disfiguring reddish thickened skin), and deafness from birth. Abbreviated KID syndrome. Another characteristic feature of KID syndrome is thin or absent scalp hair. Some patients develop cancer of the tongue, and some have subtle abnormalities of the nervous system. KID syndrome is inherited in an autosomal dominant manner and is usually due to mutation in the connexin-26 gene (located on chromosome 13).

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Reviewed on 12/27/2018

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