Fanconi anemia type C is an inherited condition in which the body cannot properly produce a protein that protects the DNA from damage.
There is a wide variety of symptoms as Fanconi anemia is a condition that affects many parts of the body. Most commonly, those affected have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. Impaired bone marrow function leads to a decrease in the production of all blood cells, resulting in extreme tiredness due to low numbers of red blood cells (anemia), as well as frequent infections due to low numbers of white blood cells (neutropenia). In many cases, the first symptoms of Fanconi anemia type C appear in infancy as frequent nosebleeds, a tendency to bruise, and physical abnormalities such as spotted skin. There is no cure for Fanconi anemia type C, and treatment consists of monitoring symptoms.
This condition is caused by pathogenic (disease-causing) variants in the FANCC gene. This condition is most often inherited in an autosomal recessive pattern, meaning both parents must be carriers to have a 25% chance of having an affected child. The risk of being a carrier is based on a person’s ancestry or ethnic background. Individuals of Ashkenazi Jewish descent have a 1 in 89 chance of being carriers of the disease. Carriers of this condition do not typically display any symptoms.
Carriers may have an increased risk of developing cancer.
Resources:
National Organization for Rare Disorders (NORD)
Revised October 2023
