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.

A Hospital Designed by Families, for Families

At Nemours Children’s Hospital, family-centered care is at the heart of everything we do. In fact, families helped shape the unique amenities and convenient services that make our hospital like no other in the region.

If Your Child Needs to Stay Overnight in Our Hospital

You’ll feel right at home in our patient's rooms designed with input from families who know what it’s like to have a child in the hospital.

Our large, comfortable, single-patient rooms have sleeping accommodations for two parents, a private bathroom, wireless internet access, connections for DVD players and game systems, and two flat-screen TVs.

Other in-room features include:
  • full floor-to-ceiling windows for natural light
  • refrigerator for family meals and snacks
  • wardrobe storage for personal items and a hotel-style safe
  • GetWellNetwork interactive television (uniquely based on your child’s age, medical condition and more) and allows your child to watch TV, surf the Web, check e-mail, play music and games, and learn about your Nemours health care team.

Our “hospital within a garden” setting features many places for you and your family to go for fresh air and relaxation, including a one-acre interactive sensory discovery garden or one of our rooftop gardens on the second and fourth floors.

We have many more comforts and amenities such as:
  • complimentary valet and parking
  • kid-friendly commons areas for siblings
  • café and coffee shop
  • nondenominational chapel

Learn More About Nemours Children’s Hospital »

Advanced Pediatric Medical Imaging Services Available Onsite

If your child needs medical imaging, we offer some of the area’s most advanced pediatric radiology services here on campus at Nemours
Children’s Hospital.

Our unique services include:
  • interventional radiology: Our team of experts uses image guidance to diagnose and treat diseases and tumors throughout the body. Certain conditions that previously required open surgery can now be treated by Nemours pediatric interventional radiologists. Nemours also offers the only dual-trained pediatric diagnostic and interventional radiologists in the state, including those based at Nemours Children's Hospital.
  • neuroradiological or cardiovascular imaging, and fetal MRI (magnetic resonance imaging): Our subspecialty-trained pediatric radiologists see children with complex conditions who require this highly specialized imaging.
  • Central Florida’s only 256-slice Brilliance iCT Scanner: We are one of only a handful of children’s hospitals in the country to have this latest generation CAT (or CT) scanner that scans faster than most machines and produces excellent images in a much shorter time with much less radiation exposure for the child.

Our team of board-certified pediatric radiologists and pediatric radiologic technologists are experts in the safe medical imaging of children of every age, even newborns.

We have also pledged our commitment to the “Image Gently” campaign of the Alliance for Radiation Safety in Pediatric Imaging, which is increasing awareness of the opportunities to promote radiation protection in the imaging of children.

Learn More About Medical Imaging at Nemours Children's Hospital »

Family-Centered Care Means We're Here for You

At Nemours, we want to hear your concerns and share with you everything we can about your child's condition and treatment. If English is not your first language, we'll make sure you understand what to expect — in your language.

Learn More About Interpreter Services at Nemours Children’s Hospital »