Digital clubbing, isolated congenital

Overview

Type of disease: Rare conditions

Isolated congenital digital clubbing is characterized by abnormally large nail plates in the finger and toes. It is caused by proliferation (fast growth) of connective tissues in the fingers and toes. Some individuals may have clubbing of just the fingers or just the toes, while other individuals may have clubbing of both. Not all digits may be affected. The disease is present at birth and is non-progressive (does not get worse over time). Symptoms are typically painless with no further complications.

Isolated congenital digital clubbing is a genetic condition caused by changes in the HPGD gene. 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. We inherit our genes in pairs, one from each parent typically. The HPGD gene is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one in four chance (25%) of having the disease.

This condition can be diagnosed by physical exam, in which physicians may feel the base of the nail and measure different depths and angles of the nails and the digits. If you or a family member has been diagnosed with isolated congenital digital clubbing, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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