What is Fragile X Syndrome?

Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity - National Fragile X Foundation

The Greenwood Genetic Center is part of the National Fragile X Clinical and Research Consortium, which is funded by the National Fragile X Foundation and the US Centers for Disease Control and Prevention.

Clinical Care

  • FXS clinics involve a clinical geneticist, genetic counselor, a developmental behavioral pediatrician and a neurologist.
  • GGC's FXS clinic can also assist with referrals to local medical specialists and behavioral and therapy services. Genetic testing is also available through GGC's Molecular Diagnostic Laboratory.
  • The Center's Greenville, SC office is the clinical home for the FXS clinic. Travel reimbursement to Greenville is available through the NFXF and the Fly with Me Fund. Clinic visits and research study enrollment in FORWARD can also be perfomed at other GGC locations and may include telemedicine and telegenetics.

Research

  • FORWARD: In collaboration with Emory University School of Medicine, GGC is a site of FORWARD (Fragile X Online Registry With Accessible Research Database), a multisite observational natural history study affiliated with the FXCRC. FORWARD acts as a research hub to connect patients to current projects.
  • ASD in FXS: Research efforts of Dr. Kaufmann and the FXCRC have focused on the codiagnosis of autism spectrum disorder (ASD) and FXS. A publication in Pediatrics explores the impact of ASD codiagnosis in FXS in terms of neurologic and behavioral co-occurring conditions and treatment approaches.

Contact Us for More Information

fragilex@ggc.org

 

 

One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

In The News