Discover the conditions we treat at Children's National Hospital. Providers at Children's National work with you and your family to decide on the best care plan for your child.
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)