Bart-Pumphrey syndrome

Genetics

• autosomal dominant
• associated with defects in GJB2

Clinical manifestations

• sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, & leukonychia
• shows considerable phenotypic variability

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/149200