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About Fragile X Syndrome

According to the CDC (Center for Disease Control & Prevention):

Fragile X Syndrome (FXS) is a genetic disorder. A genetic disorder means that there are changes to the person’s genes. FXS is caused by changes in the fragile X mental retardation 1 (FMR1) gene. The FMR1 gene usually makes a protein called fragile X mental retardation protein (FMRP). FMRP is needed for normal brain development. People who have FXS do not make this protein. People who have other fragile X-associated disorders have changes in their FMR1 gene but usually make some of the protein.

FXS affects both males and females. However, females often have milder symptoms than males. The exact number of people who have FXS is unknown, but it has been estimated that about 1.4 per 10,000 males and 0.9 per 10,000 females have FXS.

Signs and Symptoms

Signs that a child might have FXS include:

  • Developmental delays (not sitting, walking, or talking at the same time as other children the same age);
  • Learning disabilities (trouble learning new skills); and
  • Social and behavior problems (such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active).

Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS can have normal intelligence or some degree of intellectual disability. Autism spectrum disorders (ASDs) also occur more frequently in people with FXS.