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

 

 

Meet Ella

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson ...

In The News