Paediatric Geneticist

What is a Paediatric Geneticist?

Fortunately, most children are born healthy with no medical problems or birth defects. However, some children are born with differences in body structure, brain development, or body chemistry that can lead to problems with health, development, school performance, and/or social interaction. Paediatric geneticists are trained to identify the causes and natural history of these disorders. They may suggest tests and treatments that can help in understanding and caring for your child’s condition. Pediatric geneticists also can help families understand whether some conditions are hereditary (coming from the genes) and offer testing to family members who may be at risk for having children with similar problems. 

What Types of Treatments Do Paediatric Geneticists Provide? 

Paediatric geneticists diagnose, counsel, and treat families with many different kinds of problems including the following: 

  • Birth defects (physical differences present at birth causing a health problem) 

  • Conditions with one or more birth defects (Down syndrome, Williams syndrome, or achondroplasia) 

  • Conditions that can cause disabilities (fetal alcohol syndrome, or fragile X syndrome) 

  • Inborn errors of metabolism (cystic fibrosis, phenylketonuria, or sickle cell disease) 

  • Familial or hereditary problems (congenital heart disease or hypercholesterolemia) 

  • Short or tall stature (height that is significantly below or above normal range) 


Where Can I Find A Paediatric Geneticist? 

Paediatric geneticists practice in children’s hospitals, university medical centres, large community hospitals, and specialty offices in the community. Your paediatrician will be able to refer you to a paediatric geneticist. 

Paediatric Geneticists — The Best Care For Children 

Children are not just small adults. Paediatric geneticists know how to examine children in ways that put them and their families at ease. They know that families have many questions about genetics. Families are given clear explanations and told how to find information about their child’s condition. If special tests are needed, paediatric geneticists explain why tests are needed and what the results may mean. If a condition might happen in other family members, this information is explained in plain language. 

Paediatric geneticists have the training and experience to find the right diagnosis along with expertise in dealing with children and in treating children’s genetic conditions. 

If your paediatrician suggests that your child see a paediatric geneticist, you can be assured that your child will receive the best possible care.