Fragile X syndrome
For patient information click here
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 |
---|
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
Physical Examination
The physical features of Fragile X syndrome is prominent around the time of puberty. Physical features include:
Large and protruding ears Elongated face Macroorchidism (large testicles in men after puberty) Flat foot High Arched palate Hyperflexible finger joints Low muscle tone
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