The Division of Genetics at Connecticut Children's Medical Center offers genetic consultation, clinical evaluation, and counseling for a broad spectrum of genetic disorders and birth defects. Our board certified physicians and highly trained specialists offer a full range of pediatric genetic services including evaluations for children with delays in learning, autism spectrum disorders, congenital abnormalities, and more. Areas of special expertise include the diagnosis and management of:

  • 22q11.2 deletion syndrome (e.g., DiGeorge or velocardiofacial syndrome)
  • Chromosomal problems
  • Down syndrome
  • Inherited disorders of connective tissue
  • Inherited hearing loss
  • Prader-Willi syndrome

Connecticut Children’s genetics specialists perform and interpret specialized genetic testing for a range of problems, and provide up-to-date information about the cause, heritability and management of genetic conditions.

Comprehensive Down Syndrome Program

Our Comprehensive Down Syndrome Program (CDSP) is a collaborative effort between Connecticut Children’s Medical Center and the Connecticut Down Syndrome Congress, a statewide organization that raises awareness of and support for people with Down syndrome and their caregivers.

The Comprehensive Down Syndrome Program is designed to meet the growing need for integrated, coordinated and continuous care for children with Down syndrome. The CDSP is a centralized resource for Connecticut Children’s subspecialists and pediatricians, primary care physicians and family doctors from across the state to help care for infants, children and adolescents with Down syndrome.