Bart Pumphrey Syndrome (BPS) is a rare familial disorder.
MIM: 149200
Inheritance: autosomal dominant
Chromosome affected: 13q11-12
Gene affected: GJBZ, which encodes connexin 26
Clinical features in all patients:
(1) leukonychia
(2) palmoplantar keratoderma
Clinical findings which tend to be found in males:
(1) knuckle pads (typically in males)
(2) sensorineural hearing loss (SNHL)
