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GTR Home > Conditions/Phenotypes > Mutilating keratoderma

Mutilating keratoderma

Synonyms
Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Keratoderma hereditarium mutilans; Vohwinkel Syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by Maestrini et al., 1999) A variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis (604117), is caused by mutation in the gene for loricrin (LOR; 152445) on chromosome 1q21. A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; 614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13.2. [from OMIM]

Available tests

51 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (51 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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