Clinical Genetics

General Information

The Genetics Consultation Service provides diagnostic services for a wide range of genetically determined disorders and for congenital problems that originate during fetal life. From the fetal stages of life to the elderly years, individuals may develop symptoms that indicate a need for genetic evaluation. Examples include major malformations, skeletal dysplasias, mental retardation syndromes, renal failure, and late-onset neurodegeneration disorders for patients whose original diagnoses may be made by other specialists. This service educates patients and families about genetic disorders and supports them in planning for the future. Examples of conditions managed through the service include heart disease and hypertension, common cancers, major psychoses, and environmental exposures that threaten fetal development.

Disorders and problems treated by this service include:
  • Inborn errors of metabolism
  • Neurofibromatosis
  • Congenital anomalies, including craniofacial anomalies
  • Pregnancies with PKU, MSUD and other inborn errors of metabolism
  • Fragile-X and other development disability syndromes
  • Williams Syndrome
  • Neurogenetic disorders
  • Chromosomal Abnormalities
  • Enzyme infusion treatment for inherited storage disorders


Contact Us

Information and appointments
Clinical Genetics Website
Yale New Haven Children's Hospital 1 Park Street New Haven, CT 06504