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Knuckle pads, deafness AND leukonychia syndrome(BAPS)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Bart-Pumphrey syndrome; Knuckle pads, leuconychia and sensorineural deafness
SNOMED CT: Bart-Pumphrey syndrome (1271009); Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (1271009)
Gene (location): GJB2 (13q12.11)
Monarch Initiative: MONDO:0007866
OMIM®: 149200
Orphanet: ORPHA2698


Bart-Pumphrey syndrome (BAPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which shows considerable phenotypic variability (summary by Richard et al., 2004). [from OMIM]

Additional description

From MedlinePlus Genetics
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.

People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood.

The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital).

The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.  https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
Concept ID:
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Hearing impairment
MedGen UID:
Concept ID:
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
MedGen UID:
Concept ID:
White discoloration of the nails.
Knuckle pads
MedGen UID:
Concept ID:
Disease or Syndrome
Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKnuckle pads, deafness AND leukonychia syndrome
Follow this link to review classifications for Knuckle pads, deafness AND leukonychia syndrome in Orphanet.

Recent clinical studies


Dickens R, Adams BB, Mutasim DF
Int J Dermatol 2002 May;41(5):291-3. doi: 10.1046/j.1365-4362.2002.01356_3.x. PMID: 12100708

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