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Disease Information for Chromosome XXXXX Syndrome
- Clinical Manifestations
- Signs & Symptoms
- Particular physiognomy/Odd looking kids
- Craniofacial Abnormalities/Congenital
- Short stature
- Short stature Child
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
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- Child
- Population/Pediatrics population
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- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Chromosomal abnormality (Lab)
- Diagnostic Test Results
- Other Tests & Procedures
- Amniocentesis/Abnormality
- Amniocentesis/Chorion villi enzyme assay/abnormal
- Disease Mechanism & Classification
- Class
- CLASS/Systemic/no comment (category)
- Process
- PROCESS/Chromosomal disorder (ex)
- PROCESS/Congenital/developmental (category)
- PROCESS/Dystostosis/craniofacial (ex)
- Definition
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Presence of five X chromosomes (49,XXXXX) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities.
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- External Links Related to Chromosome XXXXX Syndrome
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)