Dyskeratosis Congenita, Autosomal Recessive

Dyskeratosis Congenita, Autosomal Recessive [RTEL1]: Abnormal growth of fingernails and toenails, pigmentary changes on neck and chest. Symptoms include bone marrow failure, aplastic anemia and increased risk for leukemia. Increased risk for cancers of the head, neck, anus, or genitals. Other features include pulmonary fibrosis, hair loss, osteoporosis, avascular necrosis of the joints, liver disease and short stature.

Ashkenazi Jewish Carrier Frequency: 1 in 165