Genetic Disorders

child with genetic condition

Genes and chromosomes are responsible for passing on many defining family traits from one generation to the next, as well as certain abnormalities and illnesses. Nemours pediatric geneticists – pediatricians with special training in genetics – diagnose and manage genetic disorders in children and also offer families the medical support they need when faced with a genetic problem.

Read More About Genetic Disorders
A child may be referred to a geneticist if he or she has:
  • a birth defect or physical malformation
  • problems with growth and development
  • known or suspected metabolic disease
  • significant learning and behavior problems
  • a family history of a genetic condition (such as muscular dystrophy or cystic fibrosis)
  • a medical problem whose cause is unknown

A family might also choose to see a geneticist as part of a pre-adoption evaluation for a domestic or international adoption.