Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. While most of these diseases are severe and life-limiting, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during a pregnancy through chorionic villus sampling (CVS) or an amniocentesis if the pregnancy is high risk for problems. This can occur if both parents are carriers of genetic diseases.

Diseases in this group include:

• Bloom syndrome. Babies with this disease are born small and remain shorter than normal as they grow. Their skin may look red, and they have more lung and ear infections than normal.
• Canavan disease. This disease gradually destroys brain tissue.
• Cystic fibrosis. This disease causes very thick mucus in the lungs and problems with digesting food.
• Familial dysautonomia (FD). People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination.
• Fanconi anemia. People with this problem do not have enough blood cells and have problems with the heart, kidneys, arms, or legs. They also are more likely to get cancer.
• Gaucher disease. This disease causes a type of fat called glucocerebroside to build up in certain cells in the liver, spleen, and bone marrow.
• Mucolipidosis IV. This problem causes the nervous system to break down, or deteriorate, over time.
• Niemann-Pick disease. This disease causes a type of fat called sphingomyelin to build up in cells of the liver, spleen, lymph nodes, and bone marrow.
• Tay-Sachs disease. This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system.
• Torsion dystonia. People with this problem have ongoing spasms that twist the muscles in their arms, legs, and sometimes their body.