Diseases

Fragile X Syndrome

Back

Fragile x syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2.

SYMPTOMS

Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.

CAUSES

Fragile x syndrome is caused by the expansion or lengthening of the fmr1 gene on the x chromosome, known as a gene mutation. The x chromosome is one of two sex determining chromosomes. When the gene lengthens it switches off production of a protein that is involved in brain development and other functions.