palmoplantar keratoderma with deafness (PPKDFN)

Genetics

• autosomal dominant
• associated with defects in connexin-26 (GJB2)

Clinical manifestations

• palmoplantar hyperkeratosis
• progressive, bilateral, high-frequency, sensorineural deafness

More general terms

• genetic syndrome (multisystem disorder)
• palmoplantar keratoderma

Database

• OMIM: https://mirror.omim.org/entry/148350