Rare Disease Institute - Genetics and Metabolism

Conditions We Care For

• Genetic Syndromes

  • 22q11 deletion syndrome (please contact Heather Hain, Ph.D., M.S., C.G.C., at 202-545-2510, for information)
  • Abnormal growth and development
  • Adult genetic conditions
  • Autism
  • Birth defects
  • Cancer genetics
  • Cardiac genetics
  • Connective tissue disorders
  • Craniofacial defects
  • Deletion and duplication syndromes
  • Down syndrome
  • Family counseling for genetic syndromes
  • Genetic risk counseling
  • Genetic testing interpretation
  • Hearing loss
  • Neurofibromatosis
  • Skeletal dysplasias
  • Undiagnosed genetic syndromes

• Metabolic Diseases

  • Abnormal newborn screening results
  • Biotinidase deficiency
  • Fatty acid oxidation disorders (MCAD, VLCAD, LCHAD)
  • Galactosemia
  • Lysosomal storage disorders, including enzyme replacement therapy patients
  • Maple syrup urine disease
  • Mitochondrial disorders
  • Organic acidemias (propionic acidemia, methylmalonic acidemia or aciduria)
  • PKU (phenylketonuria)
  • Urea cycle disorders (OTC, CPS, citrullinemia, arginase deficiency, HHH)

Services We Provide

• Inherited Metabolic Disorders Program

  Our Inherited Metabolic Disorders Program provides diagnostic testing, evaluation and management for patients with inborn errors of metabolism, as well as definitive testing and treatment for patients identified by newborn metabolic screenings. We are also nationally and internationally acknowledged as a leader in treating urea cycle disorders, genetic syndromes and lysosomal storage diseases. The well-rounded nature of the clinical team also makes Children’s National a noted destination for treatment of rare and ultra-rare metabolic disorders, such as NAGS and propionic acidemia.

• Multidisciplinary Clinics

  To make rare disease patient care easier for our patient families, our geneticists have leveraged their unique areas of expertise to establish various multidisciplinary clinics. These include: 

  • Cancer Genetics Clinic
  • Cardiogenetics
  • Down Syndrome Clinic
  • Neurofibromatosis
  • PROUD Clinic
  • Skeletal Dysplasia Clinic
  • Turner Syndrome Clinic

• Telehealth Visits and Online Scheduling

  Your child's appointment may be available as a telehealth visit. Please call the Bear Line at 1-888-884-BEAR (2327) to schedule and learn more.

  Our Rare Disease Institute offers a virtual genetics clinic, allowing patients to be evaluated from home. Along with in-person visits, this enables us to optimize and tailor care for every child and family. Telehealth decreases wait times and allows simple issues to be addressed quickly.

  Current Rare Disease Institute patients can schedule appointments online through the MyChildrensNational patient portal.

• Additional Assistance

  • 24-hour emergency consultations and telehealth services at area hospitals for newborns with birth defects or suspected genetic or metabolic disorder
  • Emergency consultation and diagnostic testing for newborns with abnormal state newborn screens in both Washington, D.C., and surrounding states
  • Diagnosis and management of children and adults with birth defects and genetic disorders
  • Genetic counseling and cancer screening for individuals and families with a suspected or confirmed diagnosis of a cancer predisposition syndrome, in conjunction with the Division of Oncology
  • Continuity of care through multidisciplinary clinics, including neurofibromatosis, skeletal dysplasias, Down syndrome and inborn errors of metabolism
  • Prenatal services for at-risk pregnancies with transition to coordinated management of the newborn, in conjunction with the Prenatal Pediatrics Institute
  • Genetic counseling for individuals and families with a history or suspected history of a genetic disorder
  • Carrier screening and genetic counseling for high-risk groups
  • Diagnosis and management of children and adults with inborn errors of metabolism, including those requiring special metabolic diet
  • Comprehensive care for individuals with lysosomal storage disorders, including enzyme replacement, pharmacologic chaperone, and substrate reduction therapies