Definition of Keratitis-ichthyosis-deafness syndrome
Keratitis-ichthyosis-deafness synd rome definition - medical term
An inherited disorder in which
affected persons have:
Keratitis -- gradual destruction of the cornea of the eye, sometimes leading
to blindness
Ichthyosis -- localized areas of disfiguring reddish thickened skin ("fish
skin")
Deafness -- at birth
Another characteristic feature is thin or even absent scalp hair. Some patients
have developed carcinoma of the tongue while others have subtle abnormalities of
the nervous system.
The KID syndrome is inherited as an autosomal dominant trait. The cause of the
syndrome is mutation in the GJB2 (connexin 26) gene. The mutations in GJB2 involve
one of the following amino acid substitutions: glycine replaced by arginine at position
12 (Gly12Arg), serine replaced by phenylalanine at position 17 (Ser17Phe), or aspartic
acid replaced by tyrosine at position 50 (Asp50Tyr). The disease is also called
the KID syndrome, an acronym for
K
eratitis-
I
chthyosis-
D
eafness.
Common Misspellings: keratitis-ichthyosis-deafness syndrone
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