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GTR Home > Conditions/Phenotypes > Ichthyosis, hystrix-like, with hearing loss

Ichthyosis, hystrix-like, with hearing loss

Synonyms
HID SYNDROME; Hystrix-like ichthyosis with deafness

Summary

Hystrix-like ichthyosis with deafness (HID) syndrome is an autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. Erythroderma appears shortly after birth. After the first year of life, spiky and cobblestone-like hyperkeratosis develops, covering the entire skin surface. Palms and soles are only mildly affected. Scarring alopecia may be present (summary by Van Geel et al., 2002). [from OMIM]

Available tests

54 tests are in the database for this condition.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2
    Summary: gap junction protein beta 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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