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Fragile X Syndrome – Symptoms, Causes, Treatment, Pictures

Updated on December 19, 2013

Fragile X syndrome is considered as one of the main kinds of inherited mental retardation. It is caused due to changes, errors, or mutations in a specific gene, which can be passed down through generations. Fragile X syndrome can affect people from all ethnicities, races, and economic classes.

The genetic mutation associated with fragile X syndrome inhibits that gene from producing adequate amounts of a particular protein which are needed by the cells in the body for proper and efficient growth and development. The protein is especially vital for development of the brain cells. The intensity of the symptoms is dependent on the usability and quantity of the protein.

The most common deficit seen in individuals with fragile X syndrome is intellectual disability. A vast percentages of males affected by the condition have an IQ or just 75 or even lower. Females affected by fragile X syndrome are more likely to show varying symptoms of the disorder. Some female patients may experience mental retardation and learning deficits, while other affected girls and women may have normal intelligence.

People with fragile X syndrome may also exhibit some other common types of physical defects and medical complications. They may have long ears and a long face. Patients may also experience emotional, behavioral, and sensory abnormalities.

Fragile X syndrome has no known cure. Treatment is aimed at reducing the symptoms and preventing the onset of medical complications.

Symptoms of fragile X syndrome

The signs and symptoms of fragile X syndrome differ widely, even in affected people belonging to the same family. The symptoms of fragile X syndrome are categorized into 5 comprehensive groups as listed below:

  • Learning and intelligence: A major percentage of individuals with fragile X syndrome have impaired intellectual functionality. This can cause many problems in thinking, reasoning, cognition, and learning.
    • Fragile X syndrome affected individuals have a good memory for pictures and visual designs. They may however experience problems in understanding abstract ideas, organizing different information, and problem solving.
    • Female patients usually tend to suffer from less severe deficits in intelligence as compared to males with fragile X syndrome. Females usually have normal IQ, and only one-third of them may suffer from mental retardation. They may however experience learning deficits in some forms of academics, especially in the field of mathematics.
    • IQ tests are not the most effective way to detect the occurrence of fragile X syndrome in affected people. This is because IQ scores can get affected by a variety of other factors such as attention deficits, anxiety, hyperactivity, etc.
    • Physical abnormalities: Younger children suffering from fragile X syndrome may not display any distinctive physical signs or symptoms. Some children may have velvety soft skin, a wide forehead, and a bigger head than other children of same age.
      • As patients with fragile X syndrome become older, they may develop unique physical abnormalities such as a longer face or jaw, and more noticeable larger ears. As compared to the normal population and other members of their family, affected people may also have a shorter stature.
      • After puberty, males with fragile X syndrome may experience enlargement of testicles due to imbalances in the hormone levels. Sexual functioning however usually remains unaffected.
      • Older adult patients may experience difficulties in walking and also develop tremors.
      • The gene associated with causing fragile X syndrome also plays a role in connective tissue function. Therefore patients may experience different connective tissue anomalies which in turn can cause loose flexible joints that allow extension of the joints beyond the normal range of movement, and flat feet.
      • Compromised connective tissue functioning can also elevate the susceptibility to developing recurrent ear infections, heart conditions like heart murmur, etc., and hernia.
      • Emotional and social problems: Boys affected by fragile X syndrome may elicit severe social anxiety. They are usually uncomfortable in new surroundings and situations. Excess anxiety can in turn lead to speech defects such as rapid or interrupted speech.
        • Affected men have a tendency to become easily upset. They may detest changes in the daily routine and can get increasingly aggressive when the routine changes.
        • The severity of emotional and social problems in females with fragile X syndrome is considerably lower than men.
        • Sensory abnormalities: Patients of fragile X syndrome are excessively sensitive to certain scenarios and situations.
        • Language and speech:Patients may suffer from problems in speech such as difficulties in pronunciation, stuttering, as well as language problems like wrong use of grammar.

Other anomalies associated with fragile X syndrome: There are many other conditions that have been found to affect people with fragile X syndrome, including premature ovarian failure, autism, seizures, attention deficit hyperactivity disorder, and varied connective tissue anomalies.

Causes of fragile X syndrome

  • Fragile X syndrome is caused due to alteration or mutation of a single gene present in the X chromosome. It is known as the FMR1 gene or the Fragile X Mental Retardation 1 gene. The problem arises due to repetition of a tiny section of the genetic code on a fragile part of the X chromosome. The severity of symptoms is determined by the level of such repetitions.
  • The FMR1 gene is responsible for making a protein that gives instructions for proper growth and development of different cells in the body, particularly the brain cells.
  • In people with fragile X syndrome, the genetic defects prevent the body from making adequate amounts of protein, which then causes the many abnormal symptoms associated with the condition.
  • Both males and females can get affected by fragile X syndrome. However, as males only have one X chromosome, they are at greater risk to developing serious instances of fragile X syndrome.
  • It is possible for individuals to develop fragile X syndrome even if none of the parents are carriers of the genetic defect.

Treatment of fragile X syndrome

Currently, there are no known ways to correct genetic abnormalities. Hence, fragile X syndrome has no known cure. Treatment is focused on reducing the severity of symptoms. Some of the treatment options are listed below:

  • Special education is needed to overcome the mental deficiencies and aid mental growth
  • Doctors may recommend varied medications and surgeries to correct the abnormal symptoms
  • Physical, speech, behavioral, and occupational therapies can help overcome deficiencies in different skills

Fragile X Syndrome Pictures


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