Definition An autosomal dominant form (OMIM:148210) of ectodermal dysplasia* characterised by the acronym KID
• Vascularising Keratitis
• Hyperkeratotic (Ichthyosiform) skin lesions with and
• Profound Deafness (sensorineural hearing loss), often accompanied by photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.
*Ectodermal dysplasia is a generic term for a heterogeneous group of disorders characterised by abnormal development of two or more ectodermal structures.
Molecular pathology Defects of GJB2, which encodes a gap junction protein and component of the cell-to-cell channels that facilitate the transfer of ions and small molecules between cells, cause KID syndrome.
Synonym Keratitis-ichthyosis-deafness syndrome