Fragile-X Syndrome

Introduction: Fragile-X Syndrome

Fragile-X Syndrome: Fragile X syndrome is the most common inherited form of mental retardation currently known. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Fragile-X Syndrome.

Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females. More detailed information about the symptoms, causes, and treatments of Fragile-X Syndrome is available below.

Symptoms of Fragile-X Syndrome

• Mental retardation
• Enlarged testes
• High forehead
• Enlarged jaw
• Long ears

See full list of 47 symptoms of Fragile-X Syndrome

Medical Textbooks Online about Fragile-X Syndrome

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Diagnostic Tests for Fragile-X Syndrome

• Prenatal testing

Read more about tests for Fragile-X Syndrome

Wrongly Diagnosed with Fragile-X Syndrome?

• Misdiagnosis of Fragile-X Syndrome
• Failure to diagnose Fragile-X Syndrome
• Failure to diagnose Fragile-X Syndrome

Misdiagnosis and Fragile-X Syndrome

Rare diseases misdiagnosed as Parkinson's disease: A rare genetic disorder is often misdiagnosed as Parkinson's disease for men in their 50's. The disease Fragile X disorder can show only mild symptoms in the early years, and Parkinsons-like symptoms around age 50. See misdiagnosis of Parkinson's disease....read more »

Read more about Misdiagnosis and Fragile-X Syndrome

Causes of Fragile-X Syndrome

Read more about causes of Fragile-X Syndrome.

Videos for Fragile-X Syndrome

Patient Surveys for Fragile-X Syndrome

• Patient Profile Survey
  Take Survey  View Results
• Survey about the symptoms of your Fragile-X Syndrome
  Take Survey  View Results

Reseach about Fragile-X Syndrome

Visit our research pages for current research about Fragile-X Syndrome treatments.

Clinical Trials for Fragile-X Syndrome

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Fragile-X Syndrome include:

• Effects of CX516 on Functioning in Fragile X Syndrome and Autism - This study has been completed (Current: 23 Nov 2006) - CX516 (Ampalex®)
• Protein Synthesis in the Brain of Patients With Fragile X Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006)
• An Open-Label Trial of Donepezil in Fragile X Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006) - Donepezil

Read more about Clinical Trials for Fragile-X Syndrome

Statistics for Fragile-X Syndrome

• Medical statistics for Fragile-X Syndrome
• Prevalence and incidence statistics for Fragile-X Syndrome
• Death and Mortality statistics for Fragile-X Syndrome
• Society statistics for Fragile-X Syndrome

Stories from Users Related to Fragile-X Syndrome

• Autism-Vaccine Links Get Test In Court
• Elevated Inflammation Markers. What's wrong?
• am i havin a Mental breakdown???
• help any mental health suggestions
• Any good pills for mental stress & anxiety?
• Sister/Mother mentally ill
• I am worried this is linked to my brain.....
• dr. said menopause was a MENTAL DISORDER!!
• does my son have Fragile X?
• Rash with spots on Bell End
• mental disorder and presyncope?
• Mental taste bud disorder?
• mental health
• Martin
• help mental disorder?
• Dizziness, headaches, and loss of consciousness x 14 years
• X-linked agamglobulinemia
• Mental something or other
• x-ray help
• fragile x

Related forums and stories:

• Rare Diseases (105)
  • Adrenal dysfunction?
  • Hashimoto's, Adrenal Problem, Lyme's or Mercury Poisoning?
  • shy-drager need help please
  • Kearns-Sayre syndrome
  • Adrenal insufficiency or?
  • More user stories

User Interactive Forums

Read about other experiences, ask a question about Fragile-X Syndrome, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

Article Excerpts about Fragile-X Syndrome

Fragile X syndrome is the most common inherited form of mental retardation currently known. (Source: Genes and Disease by the National Center for Biotechnology)

Definitions of Fragile-X Syndrome:

An inherited disease characterized by the presence of a fragile site in the long arm of chromosome X. It is a common cause of mental retardation, second only in frequency to the Down syndrome (trisomy 21). The expression varies with mental retardation, macroorchidism, high-pitched voice, narrow face, long jaw, large ears, prominent forehead, highly arched narrow palate, and joint laxity as the most common characteristics. Microcephaly, typical facies, shortness of stature, and absence of macroorchidism characterize the Renpenning but not Martin-Bell syndrome. Major characteristics of the Martin-Bell syndrome include: Mental retardation with speech and behavioral disorders; connective tissue dysplasia; square facies with midfacial hypoplasia; slightly below normal height without intra- uterine growth retardation; average or above average head circumference; large and frequently anteverted ears; prominent forehead and supraorbital ridges; large nose; prominent mandible which becomes apparent during adolescence; joint laxity; minor limb anomalies; dermatoglyphic abnormalities; and seizures. - (Source - Diseases Database)

Fragile-X Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Fragile-X Syndrome, or a subtype of Fragile-X Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Fragile-X Syndrome as a "rare disease".
Source - Orphanet