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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

Fragile Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.