49,XXXXX Syndrome

Common Name(s)

49,XXXXX Syndrome, 49, XXXXX

49 XXXXX syndrome, is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. Sometimes people have been misdiagnosed with Downs syndrome when the actually have 49 XXXXX syndrome because of the similarities in symptoms between the two syndromes. 49 XXXXX syndrome can cause birth defects such as short stature, mental retardation or craniofacial (bones of the skull and face) abnormalities, as well as hyperextension of the elbows, deformities of the feet and cardiac defects. Although there is currently no cure for 49 XXXXX syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by 49 XXXXX syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "49,XXXXX Syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "49,XXXXX Syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "49,XXXXX Syndrome" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "49,XXXXX Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers
 

Status: Recruiting

Condition Summary: XXY (Klinefelter); Sex Chromosome Variation; Sex Chromosome Aneuploidy; XXXY; XXXXXY; XYY (Jacob); XXYY; X (XO, Turner); XXX (Trisomy X, Triple X); XXXX (Tetrasomy X); XXXXX (Pentasomy X)

 

Last Updated: 8 Aug 2017

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