Fragile X Syndrome By: Molly Johnston raredisorders.wordpress.com
<Also known as.. FXS, Martin -Bell Syndrome, Escalante's Syndrome
What is the cause? Change/mutation of the FMR-1 gene on the X chromosome
What are the symptoms? Large forehead/ears with prominent jaw. Low muscle tone. Flexible. Behavioral Symptoms: Hand clapping/biting, mental retardation, avoiding eye contact, speech delay.
How is the disorder treated? No specific cure, trainging/education have been developed to help.
Are there any research groups for Fragile X? Fragile X Clinic/Research Program at Rush University Medical Center
Support Groups: National Fragile X Foundation. Fragile X Alliance of Ohio.
Facts about Fragile X: Symptoms come at different times, at birth or after puberty.
How is Fragile X transmitted? Fragile X Syndrome is traditionally considered an X-linked dominant condition.
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