Fragile X syndrome
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| Fragile X syndrome | |
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| Location of FMR1 gene | |
| ICD-10 | Q99.2 |
| ICD-9 | 759.83 |
| OMIM | 309550 |
| DiseasesDB | 4973 |
| MeSH | D005600 |
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Fragile X syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Fragile X syndrome On the Web |
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American Roentgen Ray Society Images of Fragile X syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords:: Martin-bell syndrome; marker X syndrome, escalante's syndrome
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fragile X syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
There are no established risk factors for Fragile X syndrome. However, the child with family history of Fragile x Syndrome, autism disorder of unknown cause, developmental delay, adult onset ataxia/tremor or any intellectual disabilities are at greater risk of developing the disorder. [1]
Screening
Genetic counseling and prenatal screening is recommended when one of the parents is shown to be a carrier of fragile X. Prenatal testing can be done by amniocentesis at 16-20 weeks or by chorionic villus sampling (CVS) at 10-13 weeks to determine if a fetus has inherited the fragile X gene. [2]
Natural History, Complications and Prognosis
Diagnosis
The diagnosis of Fragile X Syndrome is based upon detection of an alteration in the fragile X mental retardation 1 (FMR1) gene. [3]
History and Symptoms
Physical Examination
Laboratory findings
Other diagnostic studies
Treatment
Medical Therapy | Primary Prevention | Secondary Prevention | Cost Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
External links
Template:Pervasive developmental disorders Template:Chromosomal abnormalities
- ↑ 1. Carrier Testing for Fragile X Syndrome [Internet]. ucsfhealth.org. [cited 2021 Jul 15]. Available from: https://www.ucsfhealth.org/Education/Carrier Testing for Fragile X Syndrome
- ↑ Mak AS, Leung KY (2017). "Challenges in prenatal screening and counselling for fragile X syndrome". Hong Kong Med J. 23 (2): 108–9. doi:10.12809/hkmj175064. PMID 28387201.
- ↑ Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S (2017). "Fragile X syndrome: a review of clinical and molecular diagnoses". Ital J Pediatr. 43 (1): 39. doi:10.1186/s13052-017-0355-y. PMC 5395755. PMID 28420439.