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Medical Genetics

All women who are pregnant, or who are contemplating pregnancy, should consider carrier testing for genetic disorders including:

  • Fragile X syndrome - the most common cause of inherited mental retardation
  • Cystic fibrosis - a chronic disease that affects the lungs and digestive system
  • Spinal muscular atrophy-a genetic disease that affects the part of the nervous system that controls voluntary muscle movement


Certain inherited diseases occur more frequently in a given ethnic or racial group:

 
Individuals of African-American, Hispanic or Mediterranean descent:

  • Sickle cell anemia - a disease passed down through families in which red blood cells form an abnormal crescent shape
  • Thalassemia - a disease that makes an abnormal form of hemoglobin resulting in excessive destruction of red blood cells and anemia


Individuals of Ashkenazi Jewish descent:

  • Fanconi anemia - a chronic disease in which children have short stature, birth defects, bone marrow failure and an increased risk of leukemia
  • Tay-Sachs disease - a progressive degenerative neurologic disease that usually results in death by the age of four to five years
  • Canavan disease - a severe neurodegenerative disease that causes seizures, an enlarged head and increased muscle tone 
  • Niemann-Pick disease (type A) - another severe progressive neurologic disease of infancy that causes loss of neurologic function and enlargement of the liver and spleen
  • Bloom syndrome is characterized by frequent infections, poor growth and learning disabilities with a predisposition to develop common cancers
  • Mucolipidosis type IV is a lysosomal storage disease that affects the brain and nervous system
  • Gaucher disease - an inherited enzyme with effective treatment available through the Lysosomal Storage Disease program
  • Familial dysautonomia - characterized by failure to thrive, insensitivity to pain, blood pressure instability and frequent episodes of pneumonia
  • Dihydrolipoamide dehydrogenase deficiency - recurrent episodes of vomiting and abdominal pain
  • Familial hyperinsulinism - low blood sugar ranging from mild to severe 
  • Glycogen storage disease type 1a - a metabolic disorder that, if untreated, results in severe low blood sugar, enlarged liver, growth retardation and bleeding disorders
  • Maple Syrup Urine disease - a metabolic disorder that affects how certain proteins in the body called amino acids are metabolized
  • Nemaline myopathy - a neurologic disorder characterized by weakness and poor muscle tone usually in the neck, face and upper portions of the limbs 
  • Usher Syndrome Type III - hearing and vision problems that progressively worsen
  • Usher Syndrome Type IF - profound deafness at birth, severe balance problems, as well as vision impairment
     

 

my child has:

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