An alliance of individuals and organizations working together to prevent Jewish Genetic Diseases through education, awareness and screening

Diseases Common to all Jewish Groups

Ashkenazi Jewish Diseases

Sephardic-Mizrahi Diseases

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 inĀ 165

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