Conditions + Treatments

Genetic Disorders in Children

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

Contact the Division of Genetics and Genomics

Overview

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.
Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337

Close