Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
ORPHA:2698· ICD-10 Q82.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood