Niemann-Pick Disease is an infantile neurodegenerative condition which cannot be treated. Symptoms, including loss of brain function and enlargement of the liver and spleen, appear by about 6 months of age. Average life expectancy is about 2 to 3 years of age. Approximately 1 in 70 Ashkenazi Jewish individuals carries the Niemann-Pick disease gene.

Gaucher Disease (Type 1) is characterized by enlargement of the spleen and liver as well as blood abnormalities, including anemia, easy bruising, and impaired clotting. In addition, there are orthopedic problems such as bone and joint pain and an increased susceptibility to bone fracture. The age of onset of symptoms is variable, with some individuals showing symptoms in childhood and others remaining relatively symptom-free into their 50s or 60s. In addition, the severity of symptoms varies among patients. Enzyme replacement therapy has been developed in recent years and has been highly effective in reversing some symptoms and reducing the severity of others. Type 1 Gaucher disease is the most common genetic disorder in the Ashkenazi Jewish population, with a carrier frequency of about 1 in 18.

Bloom Syndrome is a condition in which children are small, grow poorly, have frequent infections, and may have learning disabilities. As adolescents and young adults, individuals with Bloom syndrome can develop common cancers such as breast cancer, colon cancer and leukemia. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 100.

Mucolipidosis Type IV (ML-IV) is a rare disorder which affects the brain and nervous system. Symptoms begin in the first year of life, resulting in severe severe psychomotor retardation and impaired vision. Some people have milder forms of the disorder. There is no known treatment.

Other Genetic Diseases
of interest to those of Ashkenazi Jewish descent

Cystic Fibrosis (CF) is a progressive, lifelong condition in which the glands that produce mucus, sweat, and intestinal secretions do not function properly. This results in thick mucus accumulation in the lungs, leading to breathing difficulty and infection. CF also causes poor digestion, and males with this disease are usually infertile. There is no cure for CF, but supportive treatments are available to help improve quality of life, and average life expectancy has improved over the years. While some babies with CF still die in infancy, many patients with CF live into their 20s and 30s. CF is found in all ethnic groups. It is most common among Caucasians, Jewish and non-Jewish alike, with a carrier frequency of about 1 in 25.

Familial Dysautonomia Familial Dysautonomia (FD) ) is a genetic neurological condition characterized by decreased pain and temperature sensation, absence of overflow tearing, pernicious vomiting, spine curvature and blood pressure lability. The carrier frequency within the Ashkenazi Jewish population is 1 in 30. The carrier frequency in non-Jewish individuals is unknown.

Fanconi Anemia, Type C is a chronic disease associated with small stature, bone marrow failure, congenital malformations and a predisposition to leukemia. For some children, the condition may also involve learning disabilities or mental retardation. The carrier frequency is the Ashkenazi Jewish population is about 1 in 90.