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GTR Home > Conditions/Phenotypes > Autosomal recessive keratitis-ichthyosis-deafness syndrome

Autosomal recessive keratitis-ichthyosis-deafness syndrome

Synonyms
Desmons syndrome; Ichthyosiform erythroderma, corneal involvement, and hearing loss; Ichthyosiform erythroderma, corneal involvement, deafness; KID syndrome, autosomal recessive

Summary

Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients (Alsaif et al., 2019; Boyden et al., 2019). An autosomal dominant form of KID syndrome (KIDAD; 148210) is caused by mutation in the GJB2 gene (121011) on chromosome 13q12. Mutation in the AP1S1 gene (603531) causes a disorder with overlapping features (MEDNIK; 609313). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADTB1, AP105A, BAM22, CLAPB2, KIDAR, AP1B1
    Summary: adaptor related protein complex 1 subunit beta 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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