Conditions / Syndrome
Bart-Pumphrey syndrome
info · Syndrome
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.
Signs and symptoms
- Hearing impairment
- Palmoplantar keratoderma
- Leukonychia
- Knuckle pad
Also known as: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS