genetic testing and counseling at the Victor Center

Preventable Jewish Genetic Diseases

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 for the same condition have the potential to pass a Ashkenazi Jewish genetic disease to their children. The Victor Center at Nicklaus Children's Hospital offers genetic screening and counseling to help carriers with their reproductive options.

19 Disease Panel*
Name Carrier
Name Carrier Frequency
Gaucher Disease 1 in 15 Niemann-Pick Disease 1 in 90
Tay-Sachs Disease (Enzyme) 1 in 25 Joubert Syndrome 1 in 92
Cystic Fibrosis § 1 in 26 Dihydrolipoamide Dehydrogenase Deficiency (DLD) 1 in 96
Familial Dysautonomia 1 in 30 Bloom Syndrome 1 in 100
Spinal Muscular Atrophy § 1 in 41 Usher syndrome type III 1 in 107
Cavanan Disease 1 in 55 Walker Warburg syndrome 1 in 112
Familial Hyperinsulinism 1 in 66 Mucolipidosis Type IV 1 in 122
Glycogen Storage Disease Type 1A 1 in 71 Usher syndrome 1F 1 in 141
Maple Syrup Urine Disease 1 in 81 Nemaline Myopathy 1 in 149
Fanconi Anemia 1 in 89 Fragile X Syndrome ^ §  
*Expanded Carrier panels available depending on insurance coverage
^Optional for females, for this X-linked disease, the female carrier frequency is presented
§Carrier frequency in Ashkenazi Jews same as in the general Caucasian population

19 Preventable Jewish Genetic Diseases

Learn about 19 of these preventable Jewish genetic diseases from the list of genetic disorders below and any disease which may be updated to the panel:

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

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. Individuals affected by spinal muscular atrophy 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)
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Autosomal Recessive Inheritance
If both parents are carriers of a mutation in the same disease gene, there is 25% chance with each pregnancy of having a child who is a carrier for the same disease. If both parents are carriers of a mutation in different disease genes, the child could be a carrier for either disease or both, but it is not likely to be affected with either disease.

About the Victor Center

The Nicklaus Children's Hospital Victor Center for the Prevention of Jewish Genetic Diseases is a thought leader in the prevention of Jewish genetic diseases. Science-based and mission driven, the Nicklaus Children's Hospital Victor Center leverages advances in genetic technology to identify carriers for severe and often fatal childhood diseases.