Our genetics clinic serves patients of all ages with genetic conditions. We work together with your family doctor to identify inherited disorders, and maximize your healthcare based on these findings. We also specialize in the management of metabolic disorders, from dietary management to growth and developmental concerns.
What is a genetic disorder?
Most of us know that Down syndrome is a genetic disorder. Cystic Fibrosis and Huntington’s disease are caused by genetic changes as well. Many disorders can occur due to a rearrangement of our chromosomes, the structures that contain our DNA. Often such changes lead to birth defects, physical features that are different from other family members, or developmental delays and even autism. Some are passed along in families over generations, like a predisposition to certain cancers. Others, like William’s syndrome, typically occur in a single individual.
Knowing the cause of a child or adult’s physical changes or learning issues may help families and physicians to:
- identify and treat associated medical conditions
- plan and optimize education
- clarifying the chances of having another affected child
Who should see a Geneticist?
Children or Adults with:
- Unexplained Birth Defects
- Unexplained developmental delays and autism
- Unexplained short stature or failure to thrive
- Sensorineural hearing loss
- Personal or family history of multiple cancers
- Multiple miscarriages and/or stillbirth
- Abnormal DNA test results
What is a metabolic disorder?
Metabolic disorders are also genetic disorders. Patients with them are missing or deficient in an enzyme that allows proper breakdown of metabolic byproducts in a safe manner. Many grow poorly and can become very ill. Feeding intolerance, unusual odors and episodic neurologic changes are often seen. Careful dietary management coupled with aggressive medical care and proper medications can result in dramatically improved health and development. These disorders are rare.
The Genetics Clinic is located on the third floor of the 400 East Campus of Dixie Regional Medical Center. Please call (435) 688-4841 for additional information or to schedule an appointment. When urgent issues arise our staff will do their best to accommodate you as soon as possible.