A pediatric genetic counselor works with newborns, infants, and children with known or suspected genetic conditions and/or birth defects.  Usually a child will be initially seen by a geneticist (genetics doctor) in addition to the genetic counselor.  The geneticist is trained to perform a clinical evaluation and is the one who can actually diagnose your child with a genetic disorder.

There are several reasons why a child might see a pediatric genetic counselor:

  • To gather information about your child’s genetic condition including recommended medical management and treatments
  • To discuss available genetic testing options
  • To review the results of genetic or chromosome testing that has already been done
  • To receive additional educational and support resources

Examples of conditions for which children might be referred to a pediatric genetic counselor include:

  • Birth defects (Cleft lip and palate, spina bifida)
  • Chromosome abnormalities (Down syndrome, Turner syndrome)
  • Developmental delay or mental retardation of unknown cause
  • Vision or hearing loss
  • Neurofibromatosis
  • Marfan syndrome
  • Osteogenesis Imperfecta
  • Di George syndrome
  • Dwarfism and other skeletal dysplasias


Helpful Links:

Pediatric Genetics Clinic Directory

Back to Top