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Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Disease definition

A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.


Classification level: Disorder
  • Synonym(s):
    • Bart-Pumphrey syndrome
    • Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
    • Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome
    • Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: Q82.8
  • OMIM: 149200
  • UMLS: C0266004
  • MeSH: -
  • GARD: 3125
  • MedDRA: -
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