Vohwinkel syndrome (DOID:0111339)
Alliance: disease page
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
Alt IDs: OMIM:124500, MESH:C536457, ORDO:3092, ORDO:494, UMLS_CUI:C0265964
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.