Genetic Disorders

child with genetic condition

Genes and chromosomes are responsible for passing on many defining family traits from one generation to the next, as well as certain abnormalities and illnesses. Nemours pediatric geneticists – pediatricians with special training in genetics – diagnose and manage genetic disorders in children and also offer families the medical support they need when faced with a genetic problem.

Read More About Genetic Disorders
A child may be referred to a geneticist if he or she has:
  • a birth defect or physical malformation
  • problems with growth and development
  • known or suspected metabolic disease
  • significant learning and behavior problems
  • a family history of a genetic condition (such as muscular dystrophy or cystic fibrosis)
  • a medical problem whose cause is unknown

A family might also choose to see a geneticist as part of a pre-adoption evaluation for a domestic or international adoption.

Nemours Children's Hospital, Orlando

13535 Nemours Parkway
Orlando, FL 32827
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Clinic Location: 4th Floor

For Appointments: (407) 650-7715

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What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
Helpful Resources
Resources for Patients & Families

The Nemours Children’s Hospital provides comprehensive evaluation and treatment for genetic disorders in children. Our main office is located on the 4th floor of the Outpatient Clinic Building on the hospital campus. We also see patients at Nemours Children's Specialty Care, Orlando, and provide consultative services for Orlando Regional Medical Center and Florida Hospital.

The medical and developmental concerns for children with different genetic disorders vary greatly. Because we are a children’s hospital, our genetic specialists can collaborate with experts from other pediatric medical specialty areas to provide the best diagnostics, care, and treatment for your child.

What to Expect at a Visit

If your child has been referred to a Nemours geneticist, your family may receive a call from one of our genetic counselors before your visit. These professionals work closely with our medical geneticists, gathering information about your family history and your child’s medical history.

During your visit, the geneticist will review the information you provided and may ask additional questions about your child’s health and development. We’ll also perform a thorough physical exam and may order x-rays, other imaging studies (such as a CT scan or MRI), and blood work.

In many cases, we may need to perform more specialized laboratory testing, including chromosome analysis, molecular DNA testing, and metabolic studies.

Because many of these tests must be performed in special labs, it can take awhile to get the results. The genetic counselor, working with the geneticist, will keep you informed of the results as soon as they are available. We may also need to perform studies on parents and siblings in order to compare them with your child’s results.

If you’re considering an adoption, our genetics specialists will review the report of the medical history and examination provided to you, including photos or videos of the child to be adopted, and any X-ray or laboratory test results available.

After Your Visit

If we do identify a genetic condition in your child, our staff will begin the process of educating and counseling your family about the condition, its cause, prognosis (outlook), treatment, and risk of recurrence.

Genetic counseling is also available to help your family assess the risk of passing on the condition in the future and to make informed family planning decisions.