The signs of Fragile X syndrome

Fragile X syndrome (FXS) is a genetic condition which results in a range of characteristic physical and intellectual limitations and emotional and behavioural features which vary in severity.

The syndrome is associated with the expansion of a single gene sequence on the X chromosome, and results in a failure of normal neural development. Fragile X is the most common known single gene cause of autism and the most common inherited cause of intellectual disability. Aside from this, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet and low muscle tone.

Speech may be cluttered or nervous and characteristics may include stereotypic movements, such as hand-flapping, and abnormal social development, particularly shyness, limited eye contact and memory problems.