Fragile X syndrome: Difference between revisions
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== [[Fragile X syndrome screening|Screening]] == | == [[Fragile X syndrome screening|Screening]] == | ||
== [[Fragile X syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]] == | == [[Fragile X syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]] == |
Revision as of 19:37, 2 September 2021
For patient information click here
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 |
Fragile X syndrome Microchapters |
Diagnosis |
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Treatment |
Case Studies |
Fragile X syndrome On the Web |
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
Screening
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. [1]
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
- ↑ 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.