Vohwinkel syndrome

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 G

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.

Signs and symptoms

• Honeycomb palmoplantar hyperkeratosis
• Autoamputation of digits
• Amniotic constriction ring
• Knuckle pad
• Hearing impairment

Also known as: KHM; Mutilating keratoderma plus deafness; PPK mutilans and deafness; VOWNKL; congenital deafness with keratopachydermia and constrictions fo fingers and toes