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Your child’s genes determine not only who they look like or take after, but also how they develop and grow.  In some cases, an irregularity in the genes can slow or alter your child’s development causing health problems. If your child suffers from a genetic condition, know that you are not alone. The genetics and metabolism experts at Randall Children’s Hospital are here for you, offering a family-first approach to care for the physical and emotional needs of your child and your family caregivers. 

You may be referred to our genetics and metabolism specialists if we believe your child has a genetic abnormality, such as: 

  • Congenital issues/unusual appearance 
  • Head or face conditions such as cleft lip, palate, Pierre Robin sequence, craniosynostosis 
  • Delayed development, autism, intellectual disability, developmental regression/loss of milestones 
  • Neurologic (brain) conditions including epilepsy, movement disorders, sensory deficits, neuropathies, strokes, structural brain disorders 
  • Hypotonia, weakness, unexplained muscular overgrowth or atrophy, rhabdomyolysis 
  • Deafness or blindness without a known environmental cause 
  • Unusually small or large stature, brittle bones, or other issues with growth or skeletal development 
  • Unusual skin lesions, birthmarks, pigmentary/hair, teeth or nail problems 
  • Congenital heart or blood vessel illnesses, arrhythmia concerns, connective tissue problems 
  • Unusual cancers, cancers at young ages, high risk of developing cancer  
  • Immunodeficiency, radiation sensitivity 
  • Over-developed puberty, amenorrhea, ambiguous genitalia 
  • Concern for an inborn error of metabolism (IEM) 
  • Genetic risk based on a family history of a genetic disorder 

Our genetics team works with children and their families on a regular basis. Together, we research and diagnose genetic and metabolic problems in order to determine the best treatments for conditions, including:

  • Enzyme replacement for metabolic storage disorders (Hunter, Hurler, Pompe, etc) 
  • Bisphosphonates for osteogenesis imperfecta/low bone mass 
  • Nusinersen/Spinraza for Spinal Muscular Atrophy (SMA)

Your care team

Maintain peace of mind knowing that our multi-talented team of doctors, counselors and specialists will meet with you on a regular basis to address your concerns. Our broad range of genetic-based expertise also covers: 

George Anadiotis, D.O., Clinical Geneticist
Drea Petersen, M.D., Clinical Geneticist
Dana Simpson, M.D., Clinical Geneticist
Kari Magnussen, M.S., Genetic Counselor
Cheryl Miranda, M.S., Genetic Counselor

Our location 

Randall Children’s Genetics and Metabolism
501 N. Graham Street, Suite 330 B
Portland, Oregon 97227
Map/Directions
 Phone: 503-944-5970
Clinic Hours: Monday - Friday, 8:00 a.m. - 4:00 p.m.


Refer to Randall Children's Hospital Specialty Care 

 


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