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Pediatric Genetics

What is pediatric genetics? 

Pediatric genetics is a discipline that seeks to find the route causes of body structure, brain development or other developmental problems in children. 

What does a pediatric geneticist do? 

Pediatric geneticists work to pinpoint history of these disorders. They will make informed recommendations for tests and treatments that can help you further understand your child's situation. Pediatric geneticists also work with families to determine whether certain conditions are hereditary and offer further testing to other family members who could be at risk.

What types of conditions do pediatric geneticists treat or provide counseling for? 

  • Birth defects 
  • Down syndrome
  • Williams syndrome (a developmental disorder affecting many parts of the body) 
  • Achondroplasia (a type of short-limbed dwarfism)
  • Diabetes caused by 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 (significantly below or above normal range)

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