Disease

Bloom Syndrome

Signs & Symptoms

Short stature. Hyper pigmented skin. Sun sensitive lesions. Infertility in males. Cancers at a young age. Respiratory infections.

Outcome

Progressive due to cancers and lung disease.

Possiblity for Treatment

Sunlight avoidance. Use of sunscreen. Antibiotics for infection. Surveillance for cancer.

Carrier Frequency

1:80 in Jews of Eastern European descent.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Canavan Disease

Signs & Symptoms

Mental retardation. Seizures. Cerebral palsy.

Outcome

Rapidly progressive. Fatal by age 9-12.

Possiblity for Treatment

None

Carrier Frequency

1:40 in Jews of Eastern European descent. Much lower in other groups.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Cystic Fibrosis

Signs & Symptoms

Frequent respiratory infections leading to lung damage. Digestive abnormalities. Infertility in males. Sometimes bleeding problems and heart failure occur.

Outcome

Usually progressive, even with treatment. Median survival in the mid to late 20's

Possiblity for Treatment

Antibiotics for infections. Respiratory inhalation therapies. Enzyme replacement for digestive problems. Heart and lung transplants for advanced disease. Gene therapy on the horizon.

Carrier Frequency

1:20 in Caucasians. Lower in other groups.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Familial Dysautonomia

Signs & Symptoms

Poor feeding. Vomiting crises. Indifferent to pain. Poor blood pressure and temperature control.

Outcome

Progressive

Possiblity for Treatment

Symptomatic for feeding, blood pressure, and respiratory problems.

Carrier Frequency

1:30 in Jews of Eastern European descent.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Familial Hyperinsulinism

Signs & Symptoms

Low blood sugar in the newborn period or during childhood, which may result in seizures, poor tone, poor feeding, and breathing difficulty.

Outcome

Variable. Fatal, if untreated in severe cases.

Possiblity for Treatment

Glucose infusions. Feeding. Drugs to reduce insulin release Resection of most of the pancreas.

Carrier Frequency

1:100 in Jews of Eastern European descent.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Fanconi Anemia, Complementation Group C

Signs & Symptoms

Low blood counts (Rbcs, Wbcs, Platelets). Hyper pigmented skin. Short stature. Kidney anomalies.

Outcome

Progressive, average age of onset of anemia at age 7. Median survival until age 13.

Possiblity for Treatment

Blood transfusions. Testosterone & steroids. Bone marrow transplants.

Carrier Frequency

1:280 in Jews of Eastern Europe descent

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Fragile X

Signs & Symptoms

Mental retardation. Large ears. Large testes. Prominent jaw.

Outcome

IQ may deteriorate with age.

Possiblity for Treatment

None

Carrier Frequency

1:200

Type of Test

DNA test. Number of repeats is predictive of risk to offspring.

Disease

Gaucher Disease

Signs & Symptoms

Bone pain. Chest pain with breathing problems. Massive enlargement of spleens and liver causing bleeding and anemia. Age of onset very variable with half the patients not showing symptoms until age 45.

Outcome

Usually progressive, but can be halted with treatment. Early onset disease is usually more severe.

Possiblity for Treatment

Costly enzyme replacement therapy. Bone marrow transplantation. Gene therapy on the horizon.

Carrier Frequency

1:13 in Jews of Eastern European descent. Lower in other groups.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Glycogen Storage Disease 1A

Signs & Symptoms

Low blood sugar, elevated blood lipids.

Outcome

Poor growth. Increased risk for liver tumors.

Possiblity for Treatment

Frequent feeding.

Carrier Frequency

1:100 in Jews of Eastern European descent.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Maple Syrup Urine Disease

Signs & Symptoms

Acidosis, coma, shock

Outcome

Early death

Possiblity for Treatment

Treatment of metabolic abnormalities may provide temporary improvement

Carrier Frequency

1:100 in Jews of Eastern European descent.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Mucolipidosis, Type IV

Signs & Symptoms

Profound mental retardation. Visual impairment.

Outcome

Progressive

Possiblity for Treatment

None

Carrier Frequency

1:100. 1:30 in Jews of Eastern Europe descent.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Niemann-Pick

Signs & Symptoms

Enlargement of liver and spleen. Failure to thrive. Mental retardation. Cerebral palsy.

Outcome

Rapidly progressive. Fatal.

Possiblity for Treatment

None at present.

Carrier Frequency

1:90 in Jews of Eastern European descent.

Type of Test

DNA test for most common mutations. Mutations do not predict severity of disease.

Disease

Tay-Sachs Disease

Signs & Symptoms

Blindness. Mental retardation. Seizures. Paralysis.

Outcome

Rapidly progressive. Fatal by age 4-5.

Possiblity for Treatment

None

Carrier Frequency

1:25 in Jews of Eastern European descent and French-Canadians. 1:300 in other groups.

Type of Test

DNA test for most common mutations. Mutations are predictive of severity of disease.