Genetic Disorders

  • Down Syndrome (Trisomy 21)

    Down syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features and, often, heart defects.

  • Marfan Syndrome in Children
    Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds the body's cells, organs, and other tissue together. Connective tissue is also important in growth and development.
  • 22q11.2 Deletion Syndrome

    22q11.2 deletion syndrome is a genetic disorder marked by hypoparathyroidism, certain heart defects, and a cleft lip or palate.