Fragile X syndrome

Fragile X syndrome, or FXS for short, is a disorder caused by the FRM1 (fragile X mental retardation) gene that affects individuals' learning and behavioral skills, as well as physical characteristics. The name "fragile X" comes from a no longer used treatment where doctors would culture cells under special conditions, revealing a weak, or "fragile" spot on the X chromosome.  FXS effects more males than females, and male characteristics are more prominent than females. For the most part, males have a greater intellectual disability than in females, and they have a long face, large ears, and soft skin. Females can show some of the same characteristics as males, but milder. There is no known cure or treatment options, but speech, language, behavioral, and physical therapies can help and individual function better. There are several reseach groups dedicated FXS, but one in particular is FRAXA. FRAXA has funded more than $25 million, and provides resources, guidance, and support for families with a child that has FXS.