Structured Summary
Abstract
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
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Synonyms
26 entry terms
- Fra(X) Syndrome
- Fragile X Mental Retardation Syndrome
- Marker X Syndrome
- Martin-Bell Syndrome
- Mental Retardation, X-Linked, Associated With Marxq28
- X-Linked Mental Retardation and Macroorchidism
- Fragile X Syndromes
- Marker X Syndromes
- Martin Bell Syndrome
- Syndrome, Fragile X
- Syndrome, Marker X
- Syndrome, Martin-Bell
- Syndromes, Fragile X
- Syndromes, Marker X
- X Linked Mental Retardation and Macroorchidism
- FRAXA Syndrome
- FRAXE Syndrome
- Fragile X-F Mental Retardation Syndrome
- Mar (X) Syndrome
- Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
- FRAXA Syndromes
- FRAXE Syndromes
- Syndrome, FRAXA
- Syndrome, FRAXE
- Syndromes, FRAXA
- Syndromes, FRAXE
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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History Note
91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90
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Previous Indexing
- Mental Retardation/genetics (1966-1982)
- Sex Chromosomes (1968-1982)
- X Chromosome (1978-1982)
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NLM Classification
QS 677
AMA Style
References
- National Library of Medicine. Fragile X Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D005600. http://id.nlm.nih.gov/mesh/2026/D005600
- Fragile X Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Fragile_X_syndrome
- Fragile X Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q221472