Pediatric Genetic and Metabolic Disorders

MedStar Georgetown University Hospital's pediatric experts offer in-depth personalized genetic evaluations of:

  • Congenital anomalies
  • Dysmorphism
  • Genetic conditions
  • Developmental delay
  • Pediatric cancers

We are committed to providing services in a trusting and compassionate environment. Services include:

  • Comprehensive diagnostic evaluation
  • Genetic counseling
  • Laboratory testing

Pediatric Neurogenetics Interdisciplinary Service

Who We Are

The Pediatric Neurogenetics Clinic is devoted to the diagnosis and treatment of children with neurogenetic conditions. These disorders can affect the brain, spinal cord, nerves and muscles and may be caused by changes in the genes. Neurogenetic conditions are often obvious at birth, but may not be recognized until later in a child’s life.

The clinic brings together the multidisciplinary expertise of specialists in pediatric genetics, pediatric neurology and child development to conduct a thorough assessment, pinpoint a diagnosis, and develop a treatment plan focused on each child’s unique physical problems and/or developmental delays.

The team works closely with other pediatric specialties including psychiatry, psychology, dermatology, and neuroradiology to ensure that each child receives a comprehensive evaluation and appropriate care throughout their childhood and into adolescence.

The team also connects parents to local and national organizations that can provide additional resources and connections to support groups made up of families who share the same experience.

Conditions We Treat

  • Angelman Syndrome
  • Ataxias
  • Brain Malformation Disorders
  • Cerebral Palsy
  • Congenital Disorders of Glycosylation
  • Familial Autism
  • Familial Epilepsy
  • Fragile X Syndrome
  • Hypotonia
  • Leukodystrophies
  • Intellectual Disabilities
  • Migrational Disorders
  • Mitochondrial Disorders
  • Neurocutaneous Disorders
  • Neurogenetic Disorders
  • Neurometabolic Disorders
  • Neurotransmitter Disorders
  • Prader Willi Syndrome
  • Rett Syndrome

What to Expect

Your first visit to clinic will include a meeting with both the pediatric geneticist and pediatric neurologist who will examine your child. Most often, your child’s medical records and the results of any previous testing will have been sent and reviewed prior to your appointment day. You will be asked to fill out a short patient questionnaire that will provide additional details about your child’s birth and medical history, as well as your family’s medical history.

After the team has completed their examination and reviewed the information provided, they will meet with you to discuss their diagnosis and next steps. The providers will let you know if any additional testing or physician referrals are needed.

You and your child will return for a follow-up visit shortly after to review new test results, in addition to planning your child’s ongoing care.

 

Make an Appointment

For an Appointment

To schedule an appointment or to request more information about the Pediatric Neurogenetics Clinic at MedStar Georgetown University Hospital, please call 202-243-3499 and select option 5.

Pediatric Neurogenetic Specialists