Fanconi’s anemia is a:
**Core Concept**
Fanconi's anemia is a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and an increased risk of cancer. It is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The underlying genetic defect involves mutations in genes involved in DNA repair, specifically the Fanconi anemia complementation group (FANC).
**Why the Correct Answer is Right**
Fanconi's anemia is caused by mutations in genes that are involved in the repair of interstrand DNA crosslinks, which are a type of DNA damage. The FANC genes encode proteins that are part of the Fanconi anemia pathway, which is essential for maintaining genomic stability. Defects in this pathway lead to increased genetic instability, resulting in the characteristic features of Fanconi's anemia, including bone marrow failure, congenital abnormalities, and an increased risk of cancer.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not a correct description of Fanconi's anemia.
**Option B:** This option is not a correct description of Fanconi's anemia.
**Option D:** This option is not a correct description of Fanconi's anemia.
**Clinical Pearl / High-Yield Fact**
Fanconi's anemia is often associated with a characteristic "bird-like" face, short stature, and other congenital abnormalities. It is essential to consider Fanconi's anemia in the differential diagnosis of individuals with bone marrow failure or congenital abnormalities.
**Correct Answer:** C.