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Fragile-X Syndrome

Fragile-X Syndrome: Introduction

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

Home Diagnostic Testing

Home medical testing related to Fragile-X Syndrome:

Wrongly Diagnosed with Fragile-X Syndrome?

Fragile-X Syndrome: Related Patient Stories

Diagnostic Tests for Fragile-X Syndrome

Test for Fragile-X Syndrome in your own home

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Fragile-X Syndrome: Complications

Read more about complications of Fragile-X Syndrome.

Causes of Fragile-X Syndrome

Read more about causes of Fragile-X Syndrome.

Disease Topics Related To Fragile-X Syndrome

Research the causes of these diseases that are similar to, or related to, Fragile-X Syndrome:

Fragile-X Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Fragile-X Syndrome

Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even absent...read more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak....read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or ...read more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be over-diagnosed (it can, of course,...read more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood pressure. The "cuff" around the arm to measure blood...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild...read more »

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...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed....read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return....read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See misdiagnosis of migraine...read more »

Fragile-X Syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Fragile-X Syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to Fragile-X Syndrome:

Choosing the Best Hospital: More general information, not necessarily in relation to Fragile-X Syndrome, on hospital performance and surgical care quality:

Fragile-X Syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Latest Treatments for Fragile-X Syndrome

Evidence Based Medicine Research for Fragile-X Syndrome

Medical research articles related to Fragile-X Syndrome include:

Click here to find more evidence-based articles on the TRIP Database

Fragile-X Syndrome: Animations

Research 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:

Statistics for Fragile-X Syndrome

Fragile-X Syndrome: Broader Related Topics

Fragile-X Syndrome Message Boards

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User Interactive Forums

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

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

 

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