Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

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Synonyms: 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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Clinical Trials

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