Ethnic groups around the world are known to have an increased risk of particular genetic diseases. Likewise, Jewish individuals of Eastern European (Ashkenazi) background have a higher risk than others of certain diseases. Most of these are due to autosomal recessive inheritance (see Glossary). There are additional genetic disorders which have a higher frequency in the Jewish population and which are related to dominant disease predisposition genes such as the BRCA1 and BRCA2 genes, which are associated with an increased risk for breast and ovarian cancer.

1 of every 6 Jewish individuals of Eastern European/Ashkenazi descent is a carrier for a Jewish genetic disease. Genetic testing is available to determine carrier status.

These disorders include diseases that are fatal in childhood and others associated with chronic debility and premature death in adulthood. There are no curative treatments for these disorders. With carrier screening and genetic counseling these diseases are preventable.

BLOOM SYNDROME is a disorder characterized by short stature, sun-sensitive facial skin lesions, increased susceptibility to infections and an increased incidence of leukemias and other cancers.  Death often occurs before age 30.  (more...)

CANAVAN DISEASE is a progressive neurologic disorder leading to brain and nervous system degeneration.  Symptoms begin in infancy with loss of early developmental skills and may include poor muscle tone, feeding difficulties and seizures.  Death typically occurs during the first two decades of life.  (more...)

CYSTIC FIBROSIS is a chronic disorder affecting primarily the respiratory, digestive and reproductive systems.  Thick, sticky mucus in the lungs and intestinal tract lead to recurrent lung infections and impaired digestion; infertility is common.  Death occurs typically in the fourth decade of life.  (more...)

FAMILIAL DYSAUTONOMIA is a disorder that affects the autonomic and sensory nervous systems.  Symptoms include impaired pain perception, vomiting, and absence of tears.  Blood pressure and body temperature are often unstable.  Recurrent pneumonias and poor growth are frequent complications.  Death often occurs in childhood or early adulthood.  (more...)

FANCONI ANEMIA, TYPE C is a blood disorder associated with bone marrow failure as well as a predisposition to leukemia and other cancers.  Short stature is common.  Some children have heart, kidney and limb abnormalities.  Learning difficulties and mental retardation may occur as well.  (more...)

GAUCHER DISEASE, TYPE 1, the most prevalent of the Jewish genetic diseases, is associated with enlargement of the liver and spleen, anemia, fatigue, bruising, bleeding, bone pain and fractures. Symptoms are highly variable in age of onset and severity.  Enzyme replacement treatment is available.  (more...)

GLYCOGEN STORAGE DISEASE, TYPE 1a is a metabolic disorder associated with low blood sugar levels, enlarged liver, anemia, bleeding, and growth failure.  Treatment of the disease requires lifelong and strict diet modification.  (more...)

MAPLE SYRUP URINE DISEASE is a disorder of amino acid metabolism leading to characteristic maple syrup odor of the urine.  Symptoms, in the absence of diagnosis and treatment, include irritability, lethargy, seizures, and coma.  Treatment consists of strict and lifelong dietary restrictions.  (more...)

MUCOLIPIDOSIS IV is a disorder of the brain and nervous system with symptoms starting in the first year of life.  Mental and physical retardation are typical as are eye problems with impaired vision.  Severity of the disorder is variable, as is the lifespan of affected patients.  (more...)

NIEMANN-PICK DISEASE, TYPE A is a neurodegenerative disorder resulting from the accumulation of a fatty substance in the liver, spleen, brain and lungs.  Symptoms include failure to thrive in early childhood, together with mental and physical deterioration.  Death occurs by two to four years of age.  (more...)

TAY-SACHS DISEASE is a progressive disorder involving the nervous system with symptoms usually appearing during the first 6 to 8 months of life.  Deterioration is generally rapid, including blindness, deafness, seizures and mental retardation.  Average life expectancy is less than six years.  (more...)