Last update 08 May 2025

Knuckle Pads, Leuconychia and Sensorineural Deafness

Basic Info

Synonyms
BAPS, BART-PUMPHREY SYNDROME, Bart Pumphrey syndrome
+ [15]
Introduction
A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.

Analysis

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