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Fragile X Syndrome

What is fragile X syndrome?

Fragile X syndrome is the most common inherited cause of mental retardation in boys. Apart from mental retardation there are number of characteristic physical feature in fragile X syndrome patients like long face, protruding ears and single crease on the palm. People suffering from fragile X syndrome show poor social interaction as they avoid eye contact with others, avoids people and usually suffer from attention deficit hyperactivity disorder characterized by poor attention span, inability to concentrate to any activities and hyperactivity.


Fragile X syndrome occurs due to mutation of the fragile X mental retardation 1 (FMR1) gene in the X chromosome. There is no cure for fragile X syndrome however counseling and proper education helps the affected person to lead almost normal life.

Symptoms of Fragile X Syndrome

Most common symptoms of fragile X syndrome include poor mental development, along with typical facial features like elongated face with large protruding ears one or both, high arched palate, overextension of the finger joints including the thumb joint known as “double jointed”, feet appear flat with single crease on the palm, poor muscle tone leading to flaccid muscle, repeated attacks of ear (otitis media) and sinus (sinusitis) infection.

Common behavioral symptoms include delayed developmental milestones, poor language development, poor interaction with other people, avoiding any sort of interaction with people, social anxiety leading to social avoidance, withdrawal and leading isolated life. Certain psychological diseases are associated with fragile X syndrome like attention deficit disorder, which affects almost all the boys and about 30% of the girls.

Many patients of fragile X syndrome suffer from obsessive compulsive disorder characterized by repetition of the same activity (stereotype behavior). Patients presenting with classical symptoms of obsessive compulsive disease are aware that the stereoptype behavior is not rational still they cannot stop themselves from repeating the actions; however patients of fragile X syndrome find the repetitive activities quite pleasant.

Patients of fragile X syndrome have vision problem because of squinting and they are also at increased risk of suffering from attacks of epileptic fits. In male patients after 40 years the memory deteriorates and in about 20% women complete stoppage of menstruation occurs before 40 years of age. In elderly people suffering from fragile X syndrome there are tremor, uncoordinated movement, abnormal gait etc.

Causes of Fragile X Syndrome

Fragile X syndrome is a genetic disorder occurring due to sudden irreversible change in the genetic material, mutation in the FMR1 (fragile X mental retardation gene 1) gene on the X chromosome. In a portion of FMR1gene there are repeat sequences of bases CGG. In healthy individual there are about 5 to 44 repeats however in fragile X syndrome patients due to mutation the number of CGG repeats increase up to 200 repeats. This FMR1 gene is responsible for synthesis of proteins that leads to normal brain growth hence mutation in the gene leads to different symptoms. This disease is more severe in males (XY) as they have only one X chromosome whereas the symptoms are less severe in females (XX) as they have two X chromosomes.

Fragile X Syndrome Treatment

There is no cure for fragile X syndrome as it is a chromosomal abnormality, however counseling, speech therapy, special educational plans along with antidepressant or anti anxiety drugs help the affected person to lead almost normal life.


Posted by in Diseases and Conditions

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