Fragile X syndrome
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Fragile X syndrome | |
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
History and Symptoms
There are a few keys that help to diagnose Fragile X syndrome, which includes significant family, developmental, cognitive, and neuropsychological histories. Family history needs to screen for any learning disabilities and mental retardation. Delayed developmental milestones in early childhood may be another indicator of fragile x syndrome. Neuropsychological features like autistic-like behavior (especially poor eye contact, social avoidance, and hand biting/hand flapping) and anxiety disorder may also be present with fragile X syndrome.
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
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