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What is a Pediatric 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. Pediatric 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 Kind of Training Do Pediatric Geneticists Have?

Pediatric geneticists are medical doctors who have had

  • Four years of medical school
  • At least 2 years of residency training in pediatrics
  • At least 2 years of additional specialty training in medical genetics
  • Certification from the American Board of Pediatrics
  • Certification from the American Board of Medical Genetics

Pediatric geneticists treat children from birth (and in some cases even before birth) through adolescence and into adulthood. Their specialized advanced training and experience prepares them to give children the unique medical care they need.

What Types of Treatments Do Pediatric Geneticists Provide?

Pediatric 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 Pediatric Geneticist?

Pediatric geneticists practice in children’s hospitals, university medical centers, large community hospitals, and specialty offices in the community. Your pediatrician will be able to refer you to a pediatric geneticist.

Pediatric Geneticists — The Best Care For Children 

Children are not just small adults. Pediatric 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, pediatric 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.

Pediatric 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 pediatrician suggests that your child see a pediatric geneticist, you can be assured that your child will receive the best possible care.

To find a pediatrician or pediatric specialist in your area, click here.

Last Updated
The information contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.
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