Bart-Pumphrey Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant condition caused by mutation(s) in the GJB2 gene, encoding gap junction beta-2 protein (connexin-26). This condition is characterized by sensorineural hearing loss, hyperkeratotic plaques on finger joints (knuckle pads), and white discoloration of nails (leukonychia) and may also be associated with palmoplantar keratoderma.

**Synonyms:** - Knuckle Pads, Leukonychia and Sensorineural Deafness - Knuckle pads, leuconychia and deafness