Bart Pumphrey syndrome

Overview

Type of disease: Rare conditions

Bart-Pumphrey syndrome is a rare genetic (inherited) condition characterized by nail and skin abnormalities and hearing loss. Individuals with this condition have white nail discoloration (leukonychia) and the nails may also be thick and crumbly. In addition, they have wart-like growths on the knuckles of their fingers and toes (knuckle pads). They may also have thickening of the skin of the palms of hands and soles of feet called palmoplantar keratoderma. The skin findings seen in Bart-Pumphrey often appear during childhood however the hearing loss, which can be moderate to severe, is usually congenital or present at birth. Though almost all affected individuals have hearing loss, the skin findings may vary even within multiple affected family members.

Bart-Pumphrey syndrome is inherited (passed through families) in an autosomal dominant manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal dominant means that if one parent has the condition (therefore the mutation) there is a 50% chance that they will pass it on to each of their children. However, sometimes the mutation or change is sporadic or new (de novo), meaning it occurred when the egg or sperm was being made in one parent. Neither parent therefore would have the condition but the individual affected with the condition now has a 50% chance of passing it to their own children. In most documented cases of Bart-Pumphrey, the affected individuals have an affected parent, though some cases are reported as de novo. Talk with a genetic counselor or specialist if you have been diagnosed with Bart-Pumphrey.

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