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The Victor Center

19 Preventable Jewish Genetic Diseases

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Certain individuals may be at risk of Jewish genetic diseases depending on their ancestry. Those who have at least one Jewish grandparent or ancestor in the Ashkenazi Jewish population, or ancestors from Central Eastern Europe, are potentially at risk. It is possible to be a carrier of the gene without having the genetic disease. However, two parents who are carriers have the potential to pass a Jewish genetic disease to their children. Miami Children's Hospital offers genetic screening and counseling to help carriers with family planning. Learn about 19 of these preventable diseases from the list of genetic disorders below:  

  1. Bloom Syndrome -- Characterized by short stature, a sun-sensitive skin rash, an increased susceptibility to infections, and higher incidence of leukemia and other cancers. (1 in 100)
  2. Canavan Disease -- A neurodegenerative disorder that presents with normal development until 2-4 months, followed by a progressive loss of skills. Those affected typically die in childhood but may live into adolescence. (1 in 40-57)
  3. Cystic Fibrosis -- Causes the body to produce thick mucus that accumulates in the lungs and digestive tract, resulting in lung infections and poor growth. (1 in 26)
  4. Dihydrolipoamide Dehydrogenase Deficiency (DLD) -- Presents in early infancy with poor feeding, frequent episodes of vomiting, lethargy, and developmental delay. Affected individuals develop seizures, enlarged liver, and blindness, and ultimately suffer an early death. (1 in 96)
  5. Familial Dysautonomia -- Causes the autonomic and sensory nervous system to malfunction, affecting the regulation of body temperature, blood pressure, and stress response, and causes decreased sensitivity to pain. Frequent pneumonia and poor growth may occur. (1 in 30)
  6. Familial Hyperinsulinism -- Characterized by hypoglycemia that can vary from mild to severe. It can be present in the immediate newborn period through the first year of life with symptoms such as seizures, poor muscle tone, poor feeding, and sleep disorders. (1 in 66)
  7. Fanconi Anemia Type C -- Associated with short stature, bone marrow failure, and a predisposition to leukemia and other cancers. Some children have limb, heart or kidney abnormalities and learning difficulties. (1 in 89)
  8. Gaucher Disease Type 1 -- A variable condition both in age of onset and symptoms. It may present with a painful, enlarged spleen, anemia, and low white blood cell count. Bone deterioration is a major cause of pain and disability. (1 in 15)
  9. Glycogen Storage Disease, Type 1a -- A metabolic disorder that causes poor blood sugar maintenance with sudden drops in blood sugar, growth failure, enlarged liver, and anemia. (1 in 71)
  10. Joubert Syndrome -- Characterized by structural malformations of the cerebellar vermis. The most common features in infants include abnormally rapid breathing, hypotonia, jerky eye movements (oculomotor apraxia), developmental delay, and ataxia. Kidney and liver abnormalities can develop, and seizures may also occur. (1 in 92)
  11. Maple Syrup Urine Disease -- A variable disorder of amino acid metabolism. Named for the characteristic maple syrup smell of urine in those with the disorder. With careful dietary control, normal growth and development is possible. If untreated, it can lead to poor feeding, lethargy, seizures, and coma. (1 in 81)
  12. Mucolipidosis IV (ML4) -- A progressive neurological disorder with variable symptoms beginning in infancy. Characteristics include muscle weakness, severe intellectual disabilities, and eye problems. (1 in 122)
  13. Nemaline Myopathy -- The most common congenital myopathy. Infants are born with hypotonia and usually have problems with breathing and feeding. Later, skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life but development is delayed. (1 in 149)
  14. Niemann-Pick Disease Type A -- A progressive neurodegenerative disease in which a harmful amount of fatty substance accumulates in different parts of the body leading to death by age two to four years old. (1 in 90)
  15. Spinal Muscular Atrophy (SMA) -- A group of Jewish genetic diseases affecting the motor neurons of the spinal cord and brain stem. Affected individuals have progressive muscle degeneration and weakness, eventually leading to death. (1 in 41)
  16. Tay-Sachs Disease -- An apparently healthy child at birth begins to lose skills around 4-6 months of age, with progressive neurological decline leading to blindness, seizures, and unresponsiveness. Death usually occurs by the age of 4-6. (1 in 25)
  17. Usher Syndrome Type 1F -- Characterized by profound hearing loss present at birth, and adolescent-onset retinitis pigmentosa, a disorder that significantly impairs vision. (1 in 141)
  18. Usher Syndrome Type III -- Causes progressive hearing loss and vision loss. Hearing is often normal at birth with progressive hearing loss typically beginning during childhood or early adolescence. Often leads to blindness by adulthood. (1 in 107)
  19. Walker-Warburg Syndrome -- A severe muscle, eye, brain syndrome that presents with muscle weakness, feeding difficulties, seizures, and blindness, with eye and brain anomalies and delayed development. Life expectancy is under 3 years. (1 in 149)