Fragile

Fragile X syndrome is a genetic disorder which results in intellectual disability, behavioral and learning challenges and various physical characteristics. It is also known as Martin-Bell syndrome or Escalante's syndrome.

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 types of sex chromosomes. The other is the Y chromosome. Males have one X and one Y chromosome and females have two X chromosomes. The presence of an abnormal gene on the X chromosome can lead to Fragile X syndrome.

Symptoms

The symptoms of Fragile X syndrome can vary and can include any of the following:

• Intellectual disability
• Behavioral and learning challenges
• Physical characteristics such as large ears, long face, soft skin and large testicles (in males)

Diagnosis

Diagnosis of Fragile X syndrome can be made through a DNA blood test. This test looks at the FMR1 gene on the X chromosome to see if it is normal or if it is mutated.

Treatment

There is currently no cure for Fragile X syndrome. However, treatment can help to manage symptoms and improve quality of life. Treatment may include any of the following:

• Educational therapy
• Medication
• Speech and language therapy
• Occupational therapy
• Behavioral therapy

See also

• Genetic disorders
• Intellectual disability
• Behavioral disorders
• Learning disabilities
• Physical characteristics
• DNA blood test
• FMR1 gene
• X chromosome
• Y chromosome
• Sex chromosomes
• Gene mutation
• Educational therapy
• Medication
• Speech and language therapy
• Occupational therapy
• Behavioral therapy

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