Genetics Home Reference :
25
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.
MalaCards based summary :
Bart-Pumphrey Syndrome, also known as
knuckle pads, leukonychia, and sensorineural deafness, is related to
keratoderma, palmoplantar, with deafness and
keratitis-ichthyosis-deafness syndrome, autosomal dominant. An important gene associated with Bart-Pumphrey Syndrome is
GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are
Vesicle-mediated transport and
G-Beta Gamma Signaling. Affiliated tissues include
skin, and related phenotypes are
sensorineural hearing impairment and
subcutaneous nodule
Disease Ontology :
12
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has material basis in heterozygous mutation in the GJB2 gene on chromosome 13q12.
NIH Rare Diseases :
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The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2698 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. Visit the Orphanet disease page for more resources.
OMIM :
56
Bart-Pumphrey syndrome (BAPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability (summary by Richard et al., 2004).
(149200)
KEGG :
36
Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding connexin-26, is mutated in the disease.
UniProtKB/Swiss-Prot :
73
Knuckle pads, leukonychia, and sensorineural deafness: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.
Wikipedia :
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Bart-Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and...
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Rare otorhinolaryngological diseases 
