Conditions / Syndrome
palmoplantar keratoderma-deafness syndrome
info · Syndrome
A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.
Signs and symptoms
- Hearing impairment
- Palmoplantar hyperkeratosis
Also known as: PPK-deafness syndrome; keratoderma palmoplantar deafness; palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar keratoderma with deafness