Genetic Disorders


Genetic disorders include congenital malformations, chromosomal disorders and metabolic diseases, also known as inborn errors of metabolism.

  • Some of the symptoms can be the same as those for conditions that are not inherited
  • Features can appear at birth (congenital heart disease or cleft lip or palate) or during the course of childhood (developmental delays or learning problems)
  • Diagnosis may involve a physical exam or targeted genetic testing

Genetic services at Boston Children's Hospital

  • The Division of Genetics and Genomics works closely with the Genetics Division's research laboratories to develop scientific findings into new treatments and cures for your child.
  • Home to world's only center studying rare "orphan" diseases that affect fewer than 200,000 people in the country.
  • The Gene Partnership Program is poised to become the richest database of genetic and clinical pediatric data in the world.
  • Researchers the Autism Care and Research Program are investigating genetic causes of autistic spectrum disorders (ASDs) in the hopes of developing better medical treatments and earlier diagnostic tests.
  • Researchers are studying genes involved in dyslexia; specifically, genes involved in directing how the brain develops.