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/Alfred I. duPont Hospital for Children, Wilmington

1600 Rockland Road
Wilmington, DE 19803
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Phone: (302) 651-5916

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
Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Forms & Resources
Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families

The medical and developmental concerns for children with different genetic disorders vary greatly. For this reason, at Nemours/Alfred I. duPont Hospital for Children we frequently collaborate with other medical specialty areas, such as Developmental Pediatrics or the Craniofacial Clinic, to create programs tailored to children with specific hereditary disorders.

We currently have special programs for children with the following conditions:

Our genetics specialists also work out in the community, providing evaluations for patients at Christiana Care Medical Center in Newark, Del.

Comprehensive Care for Children With X and Y Chromosome Variations

At Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., we offer a comprehensive, multidisciplinary program to provide the best possible care for children with X and Y chromosome variations such as Klinefelter syndrome, Turner syndrome and XYY syndrome. It's called the “Nemours eXtraordinarY Kids Program,” and addresses everything from genetic counseling, testing, diagnosis and family support to physical development, motor skills development, speech and language, social skills, behavior and academics.

At Nemours we believe in a family-centered care approach. To accomplish that, our treatment team will meet with you and your family every step of the way so that you're completely informed about your child's condition and recommended care. We'll help you identify needs and resources and help your child reach his or her full potential.

The treatment team for the Nemours eXtraordinarY Kids Program includes health professionals from a variety of areas, including:

The team is led by Judith Ross, MD, a pediatric endocrinologist and the program's director. Dr. Ross is very well known in the field and has a vast amount of experience treating children with these conditions. In fact, she's devoted the greater part of her career to the study and treatment of X and Y chromosome variations. Her work with our eXtraordinarY Kids Program includes providing overall guidance concerning physical features, hormonal/endocrine issues and treatment, neurodevelopmental and genetic aspects, and any related medical concerns.

Learn More About the Nemours eXtraordinarY Kids Program (PDF) »

What to Expect at a Visit

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

During the visit, the geneticist will review the information you provided as well as ask additional questions about your child’s health and development. He or she will also perform a thorough physical exam and often order X-rays, other imaging studies (such as a CT scan or MRI), and blood work.  In many cases, more specialized laboratory tests may also be necessary, such as chromosome analysis, metabolic studies, and molecular DNA testing.

Because many of these tests must be performed in special labs, it can take a while to get the results. The genetic counselor, working with the geneticist, will keep you informed of the results. Sometimes studies need to be performed on the parents as well, in order to compare them with the child’s results.

In the case of prospective adoption, the genetics specialists will review the report of the medical history and examination that has been provided, including photos or videos of the child to be adopted, and any X-ray or laboratory test results available.

After Your Visit

If a condition is identified after a diagnostic evaluation, our staff will begin the process of educating and counseling families about the condition, its cause, prognosis (outlook), treatment, and risk of recurrence.

We may also consult with other pediatric subspecialties, such as Neurology, Ophthalmology, Endocrinology, Metabolism, or Orthopedics, to create a management plan based on the child’s needs. Genetic counseling is also available to help families assess their risk of passing on the condition in the future and to make family planning decisions.