MeSH Browser

MeSH Heading: Fragile X Syndrome
Tree Number(s): C10.597.606.360.455.500; C16.131.260.830.300; C16.320.180.830.300; C16.320.322.500.500; C16.320.400.525.500
Unique ID: D005600
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D005600
Scope Note: 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)
Entry Term(s): FRAXA Syndrome; FRAXE Syndrome; Fra(X) Syndrome; Fragile X Mental Retardation Syndrome; Fragile X-F Mental Retardation Syndrome; Mar (X) Syndrome; Marker X Syndrome; Martin-Bell Syndrome; Mental Retardation, X-Linked, Associated With Fragile Site Fraxe; Mental Retardation, X-Linked, Associated With Marxq28; X-Linked Mental Retardation and Macroorchidism
NLM Classification #: QS 677
Previous Indexing: Mental Retardation/genetics (1966-1982); Sex Chromosomes (1968-1982); X Chromosome (1978-1982)
See Also: Chromosome Fragile Sites; Chromosome Fragility; Intellectual Disability; Trinucleotide Repeat Expansion
Public MeSH Note: 91; was see under SEX CHROMOSOME ABNORMALITIES 1983-90
History Note: 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90
Date Established: 1991/01/01
Date of Entry: 1982/04/22
Revision Date: 2018/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Neurologic Manifestations [C10.597]
  - Neurobehavioral Manifestations [C10.597.606]
    - Intellectual Disability [C10.597.606.360]
      - X-Linked Intellectual Disability [C10.597.606.360.455]
        
        Adrenoleukodystrophy [C10.597.606.360.455.124]
        
        Coffin-Lowry Syndrome [C10.597.606.360.455.249]
        
        Fragile X Syndrome [C10.597.606.360.455.500]
        
        Glycogen Storage Disease Type IIb [C10.597.606.360.455.562]
        
        Lesch-Nyhan Syndrome [C10.597.606.360.455.625]
        
        Menkes Kinky Hair Syndrome [C10.597.606.360.455.687]
        
        Mucopolysaccharidosis II [C10.597.606.360.455.750]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.597.606.360.455.875]
        
        Rett Syndrome [C10.597.606.360.455.937]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Chromosome Disorders [C16.131.260]
    - Sex Chromosome Disorders [C16.131.260.830]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Chromosome Disorders [C16.320.180]
    - Sex Chromosome Disorders [C16.320.180.830]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Genetic Diseases, X-Linked [C16.320.322]
    - X-Linked Intellectual Disability [C16.320.322.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]
    - X-Linked Intellectual Disability [C16.320.400.525]

Fragile X Syndrome Preferred

Concept UI: M0008811
Scope Note: 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)
Terms: Fragile X Syndrome Preferred Term
Term UI T016969
Date01/01/1999
LexicalTag NON
ThesaurusID; Marker X Syndrome
Term UI T782125
Date12/14/2010
LexicalTag NON
ThesaurusID; Fra(X) Syndrome
Term UI T782126
Date12/14/2010
LexicalTag NON
ThesaurusID; Martin-Bell Syndrome
Term UI T369635
Date11/03/1999
LexicalTag EPO
ThesaurusID; Fragile X Mental Retardation Syndrome
Term UI T811541
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Mental Retardation, X-Linked, Associated With Marxq28
Term UI T811542
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); X-Linked Mental Retardation and Macroorchidism
Term UI T782127
Date12/14/2010
LexicalTag NON
ThesaurusID

FRAXA Syndrome Narrower

FRAXE Syndrome Narrower

Fragile X Syndrome MeSH Descriptor Data 2025