MedlinePlus Health Topics

Last uploaded: January 29, 2019
Preferred Name

Fragile X Syndrome

Synonyms

FXS

Definitions

<p>Fragile X syndrome is the most common form of inherited <a href='https://medlineplus.gov/developmentaldisabilities.html'>developmental disability</a>. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X. </p> <p>People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include</p> <ul> <li>Intelligence problems, ranging from learning disabilities to severe intellectual disabilities</li> <li>Social and emotional problems, such as aggression in boys or shyness in girls</li> <li>Speech and language problems, especially in boys</li> </ul> <p>A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help.</p> <p >NIH: National Institute of Child Health and Human Development</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667

altLabel

FXS

cui

C0016667

Date created

01/06/2004

definition

Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X.

People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include

  • Intelligence problems, ranging from learning disabilities to severe intellectual disabilities
  • Social and emotional problems, such as aggression in boys or shyness in girls
  • Speech and language problems, especially in boys

A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help.

NIH: National Institute of Child Health and Human Development

Inverse of RQ

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751156

Inverse of SIB

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0018995

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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674

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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0015923

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0027794

Inverse of SY

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751156

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667

MP HEALTH TOPIC URL

https://medlineplus.gov/fragilexsyndrome.html

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/fragilexsyndrome.html

MP PRIMARY INSTITUTE URL

Eunice Kennedy Shriver National Institute of Child Health and Human Development https://www.nichd.nih.gov/Pages/index.aspx

notation

C0016667

prefLabel

Fragile X Syndrome

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1510586

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0008073

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

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http://purl.obolibrary.org/obo/DOID_14261 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/309550 Online Mendelian Inheritance in Man CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84717 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D005600 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D005600 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q99.2 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/300624 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/300624 Online Mendelian Inheritance in Man LOOM