Keratitis–ichthyosis–deafness syndrome

Keratitis–ichthyosis–deafness syndrome, also known as ichthyosiform erythroderma, corneal involvement, and deafness, presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness. It is caused by a mutation in connexin 26.

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