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Diseases » Fragile-X Syndrome » Summary

What is Fragile-X Syndrome?

What is 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.
  • 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

Fragile-X Syndrome: Introduction

Types of Fragile-X Syndrome:

Broader types of Fragile-X Syndrome:

How many people get Fragile-X Syndrome?

Prevalance of Fragile-X Syndrome: approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
Prevalance Rate of Fragile-X Syndrome: approx 1 in 16,000 or 0.01% or 17,000 people in USA [about data]
Incidence (annual) of Fragile-X Syndrome: about 1 in 1500 males1.
Incidence Rate of Fragile-X Syndrome: approx 1 in 3,000 or 0.03% or 90,666 people in USA [about data]

Who gets Fragile-X Syndrome?

Gender Profile for Fragile-X Syndrome: Mostly in men; carrier women can have mild symptoms.

Gender Ratio for Fragile-X Syndrome: slight male predominance

Gender Profile for Fragile-X Syndrome: Fragile X syndrome is a defect in the X chromosome and its effects are seen more frequently, and with greater severity, in males than females. (Source: Genes and Disease by the National Center for Biotechnology)

How serious is Fragile-X Syndrome?

Complications of Fragile-X Syndrome: see complications of Fragile-X Syndrome

What causes Fragile-X Syndrome?

Causes of Fragile-X Syndrome: see causes of Fragile-X Syndrome

What are the symptoms of Fragile-X Syndrome?

Symptoms of Fragile-X Syndrome: see symptoms of Fragile-X Syndrome

Complications of Fragile-X Syndrome: see complications of Fragile-X Syndrome

Can anyone else get Fragile-X Syndrome?

Inheritance: see inheritance of Fragile-X Syndrome

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Fragile-X Syndrome: Testing

Diagnostic testing: see tests for Fragile-X Syndrome.

Misdiagnosis: see misdiagnosis and Fragile-X Syndrome.

How is it treated?

Doctors and Medical Specialists for Fragile-X Syndrome: Medical Geneticist ; see also doctors and medical specialists for Fragile-X Syndrome.
Treatments for Fragile-X Syndrome: see treatments for Fragile-X Syndrome
Research for Fragile-X Syndrome: see research for Fragile-X Syndrome

Organs Affected by Fragile-X Syndrome:

Organs and body systems related to Fragile-X Syndrome include:

Name and Aliases of Fragile-X Syndrome

Main name of condition: Fragile-X Syndrome

Class of Condition for Fragile-X Syndrome: genetic repeating triplet, genetic x-linked recessive

Other names or spellings for Fragile-X Syndrome:

Maxtin Bell Syndrome, MBS, Fragile X disorder, Martin-Bell syndrome, Marker X syndrome, FRAXA Syndrome, Fra(X) syndrome, FXS, X-linked mental retardation and macroorchidism, Fragile X syndrome type 1

Martin-Bell-Renpenning syndrome Source - Diseases Database

Marker X syndrome, Martin-Bell syndrome, Mental retardation, X-linked, associated with marxq28, X-linked mental retardation and macroorchidism, MBS1, Moebius syndrome 1, Congenital ophthalmoplegia and facial paresis, Facial diplegia, congenital
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Fragile-X Syndrome: Related Conditions

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

1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995

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