What is fragile X syndrome also known as?

Fragile X syndrome (FXS), also known as Martin-Bell syndrome, is an inherited condition that causes developmental delays, intellectual disabilities, learning and behavioral issues, physical abnormalities, anxiety, attention-deficit/hyperactivity disorder and/or autism spectrum disorder, among other problems.

Is fragile X similar to Down syndrome?

Fragile X syndrome is the most commonly diagnosed inherited cause of intellectual disability, and boys are affected more often than girls. Fragile X syndrome is second only to Down syndrome as a cause of intellectual disability in boys. However, unlike Fragile X syndrome, Down syndrome is not inherited in most cases.

Does my son have fragile X syndrome?

But some children with Fragile X might have the following physical features: long and narrow face. prominent ears. poor muscle tone – which can cause crossed eyes or a squint, extra curve in the spine or slack face muscles (particularly in young children)

Why is fragile X syndrome more common in males?

Males are usually more severely affected than females). It is the absence or severe reduction of the protein made by the FMR1 gene, FMRP, that causes fragile X syndrome. Mutation of the FMR1 gene causes the loss or reduction of FMRP.

What is Williams syndrome?

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.

What is a fragile child?

A child is defined as “medically fragile” when, due to abuse or neglect, illness, congenital disorder or brain injury, he/she requires medications, treatments and/or specialized care or equipment. Some conditions that may qualify a child as medically fragile are: Fetal alcohol syndrome.

What is the lifespan of someone with Williams syndrome?

Some people with Williams syndrome may have a reduced life expectancy due to complications of the disease (such as cardiovascular involvement). No studies specifically exist on life expectancy, although individuals have been reported to live into their 60s.

What is the mean of fragile?

1a : easily broken or destroyed a fragile vase fragile bones. b : constitutionally (see constitutionally sense 1a) delicate : lacking in vigor a fragile child. 2 : tenuous, slight fragile hope a fragile coalition.

What kind of genetic disorder is fragile X syndrome?

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).

Can a partial change in Fragile X cause a disorder?

Fragile X-associated disorders can be caused by this type of partial change, called a premutation of the FMR1 gene. People with a premutation of the FMR1 gene do not have FXS but may have another fragile X-associated disorder.

How can you tell if you have fragile X syndrome?

. FXS can be diagnosed by testing a person’s DNA from a blood test. A doctor or genetic counselor can order the test. Testing also can be done to find changes in the FMR1 gene that can lead to fragile X-associated disorders.

Can a person with Fragile X syndrome have FXPOI?

People with a premutation of the FMR1 gene do not have FXS but may have another fragile X-associated disorder. Some people with a premutation may have noticeable symptoms, and others may not. Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) is a cause of infertility and early menopause among adult women.

Are there any diseases similar to Fragile X syndrome?

Fragile X syndrome often looks very similar to Autism Spectrum Disorder (ASD).

Can a premutation cause fragile X syndrome ( FXS )?

Other Fragile X-Associated Disorders (Premutation) Fragile X-associated disorders can be caused by a premutation of the FMR1 gene. People with a premutation of the FMR1 gene do not have FXS but may have another fragile X-associated disorder. Some people with a premutation may have noticeable symptoms, and others may not.

What does gray zone mean for Fragile X syndrome?

A FMR1 repeat number between 45 and 54 is called “intermediate” or “gray zone”, but this minor instability does not lead to any symptoms of fragile X syndrome or the FMR1 -related disorders. Having an intermediate number of CGG repeats is still considered as being in the normal range of repeat number.