Pediatric Clinical Genetics

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)

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.