KID syndrome

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KID syndrome2016-12-03T06:40:54+00:00

KID syndrome

KID syndrome image from New Medical Terms

Billy the KID

DERMATOLOGY, PAEDIATRICS

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 

References http://www.uniprot.org/uniprot/P29033 

http://www.omim.org/entry/148210

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