Fragile X Syndrome

This disorder is also called by names Marker X syndrome and Martin Bell syndrome named after the scientists who invented this syndrome. Fragile X syndrome is a genetic condition affecting the intellectual ability of boys in particular causing mild to serious mental retardation. This disorder occurs when there is some change in a gene by name FMR1 (Fragile X Mental Retardation-1).

In this particular gene, a small part gets coded several times upon the X chromosome thus making it weaker and fragile. The more number of times, it gets coded, and the more will be the mental retardation problem. Basically FMR1 gene is responsible for making a protein required for growth of brain and defective gene certainly have great impact on the brain.

Causes :

Exact reason or factor which causes fragile X syndrome is not known.

Symptoms :

Since the disorder is caused due to birth defects of encoded chromosome, the symptoms are very obvious. There will be delay in normal development and the affected child will find it difficult to reach each developmental stage. For instance the child may show slight delay in walking and twisting and may not be able to do normal activities like clapping the hands etc. He or she may be hypersensitive and hyperactive in behavior.

The extent of mental retardation may vary widely with that of coding of chromosome. The child may show delay in learning the language and speaking it. He cannot make sustained eye contacts. As the child grows, the severity of the disease may increase considerably.

Physical symptoms of such children are flat feet, soft skin, enlarged body size, flexible joints and extended ears with prominent jaw. However not all the children with fragile X syndrome will not have all the symptoms mentioned above. The intensity of retardation and delay in developmental stages may vary significantly from one child to other. The girl child may have menopause early and have less chance of becoming pregnant.

Apart from developmental delay, there may be problems with feeding, toileting and it also affects the muscles and skeletal system for some children. Some children may suffer from neuro-psychological disorders like anxiety, depression and autism. As they grow into adult, there may be problems like obsessive compulsive disorder (OCD) and other types of psychological problems. In addition, some of them may have seizures and may require staying on anti-convulsive drugs for long term.

Diagnoses :

Any doctor can easily identify the child born with fragile X syndrome, by mere physical examination of the baby. Large head, protruding ears, big sized testicles are some of the signs. For confirming the illness, your doctor may do genetic testing.

Treatment :

No medicines or therapy is available for curing this disorder, since it is inherited by birth. However, the severity of the disease can be controlled by providing behavioral therapy along with medications for controlling the symptoms of disease.

Pictures of Fragile X Syndrome :

Images, Pics, Pictures and Photos of Fragile X Syndrome

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Prevention :

In case of family history of having this disorder, counseling can be done to affected parents for not getting pregnant.

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