Term Name: | Vohwinkel syndrome |
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Synonyms: | congenital deafness with keratopachydermia and constrictions fo fingers and toes, keratoderma hereditarium mutilans, KHM, mutilating keratoderma of Vohwinkel, Mutilating keratoderma plus deafness, PPK mutilans and deafness, VOWNKL |
Definition: | A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. |
Ontology: | Human Disease [DOID:0111339] ( DOID:0111339 ) |