Knuckle pads, deafness AND leukonychia syndrome(BAPS)

MedGen UID:: 82727
•Concept ID:: C0266004
•: 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): Gene(s) directly associated with this condition or phenotype.	GJB2 (13q12.11)

Monarch Initiative:	MONDO:0007866
OMIM®:	149200
Orphanet:	ORPHA2698

Definition

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