What is dyskeratosis congenita?

Also known as: DC, DKC, short telomere disease, dyskeratosis congenita syndrome, dysfunctional telomere maintenance.

Dyskeratosis congenita is a rare form of bone marrow failure, (which results in decreased numbers of red blood cells, white blood cells and platelets) with associated skin/nail abnormalities, and thickened white patches in the mouth.

Other abnormalities that may also be found include, short stature, eye and teeth changes, lung, liver and gut abnormalities and others. There may be an increased risk for leukemia and cancer.

---

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM