Neonatal Genetics, Screening, Rare Diseases and Orphan Drugs

  • Birth defects
  • Fetal alcohol syndrome, or fragile X syndrome
  • Inborn errors of metabolism
  • Familial or hereditary problems (congenital heart disease or hypercholesterolemia)
  • Short or tall stature (height that is significantly below or above normal range)
  • Hearing test
  • Homocystinuria
  • Maple syrup urine disease
  • Glutaric aciduria type 1
  • Isovaleric acidaemia

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