Stephen J. Schueler, M.D.

Overview Incidence Symptoms Evaluation Treatment Underlying Cause Genetics

Fragile X Syndrome Overview

What is Fragile X syndrome?
Fragile X syndrome is an inherited disorder that causes mental retardation and physical deformities. A person with Fragile X syndrome has a defective gene located on the X chromosome. The defective gene prevents normal development of the brain. It is the most common cause of inherited mental impairment. Females generally have a milder form of the disease than males.

What are the symptoms of Fragile X syndrome?
Symptoms of Fragile X syndrome include mental retardation and delays in speech and language development. Other features include poor eye contact, short attention span, hyperactivity, hand biting, large ears, and large testicles.

How does the doctor treat Fragile X syndrome?
There is no cure for Fragile X syndrome only the management of speech and developmental problems.

Continue to Fragile X Syndrome Incidence

Last Updated: Feb 8, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Fragile X Syndrome References
  1. Dolen G, Bear MF. Courting a cure for fragile X. Neuron. 2005 Mar 3;45(5):642-4. [15748838]
  2. Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. 2005 Jul 1;72(1):111-3. [16035691]
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