Fragile X SyndromeFragile X Syndrome (FXS) is the most common, currently known, single-gene cause of inherited intellectual disability and autism.

Caused by a defect in the DNA, this disorder is seen in both boys and girls. A variable pattern of physical, behavioral and cognitive problems can make diagnosis challenging. Parents can be on the lookout and help us identify affected kids.

Physical findings may be none (especially in girls) or may include long face, very flexible joints, and prominent ears. In boys, large testicles may also be present. In babies, physical markers for Fragile X can be absent or subtle.

Fragile X behaviors can include poor eye contact, hand flapping, hand biting, attention problems, anxiety, and social avoidance. Thirty percent of kids with FXS are diagnosed with autism.

Testing for FXS is available. Advantages of early detection include earlier recognition and training and education for developmental problems that may affect home or school life.

Please contact us if your child suffers from cognitive or behavioral problems, or if you notice physical signs that may indicate Fragile X Syndrome.

We are here to help every step of the way.