Term Name: Vohwinkel syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome