Fragile X syndrome

Disease Overview

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome.[1122] This condition causes a range of developmental problems including learning disabilities and cognitive impairment.[1123] It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.[1122] Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features.[1123] Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner.[1122][1123] There is no cure yet and treatment is based on the symptoms present in the person. Early physical and education therapy is recommended.[8172]

Synonyms

• Marker X syndrome
• Martin-Bell syndrome
• FRAXA syndrome
• Fra(X) syndrome
• FXS
• X-linked mental retardation and macroorchidism