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keratitis-ichthyosis-deafness syndrome (KID syndrome)
Pathology: ectodermal dysplasia
Genetics:
- autosomal dominant
- associated with defects in GJB2
Clinical manifestations:
- association of hyperkeratotic skin lesions with vascularizing keratitis & profound sensorineural hearing loss
- clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating & dysplastic finger & toenails
Related
ichthyosis hystrix-like with deafness syndrome (HID syndrome)
General
ectodermal dysplasia
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 148210
References
OMIM :accession 148210