Revesz syndrome

Common Name(s)

Revesz syndrome

Revesz syndrome is a rare and severe genetic condition that is a variant or subtype of dyskeratosis congenita (please also visit: dyskeratosis congenita) and is primarily characterized by vision abnormalities and bone marrow failure. Typical symptoms of dyskeratosis congenita (DKC) include nail dysplasia (poorly developed nails), white patches inside the mouth (oral leukoplakia), and skin coloration differences especially on the neck and back. Individuals with Revesz syndrome have additional symptoms that include vision abnormalities or blindness, increased bruising and bleeding, low red blood cell counts due to bone marrow abnormalities, blotchy skin, thin and irregular hair, calcium deposits in the brain (cerebral calcifications), delayed growth, increased risk of certain cancers and developmental delays. Symptoms of Revesz syndrome typically onset during childhood. Treatment is symptomatic and bone marrow transplantation is sometimes an option.

Revesz is a telomere disorder (please also visit: Telomere biology disorder). Telomeres are the buffers at the end of the chromosomes (long strands of DNA in the cells containg vital genetic information) which function to protect the chromsomes and DNA near the end of the strands. There is currently no cure, but you should talk to your doctor for the most up to date information. Support groups are a good source of support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Revesz syndrome" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

Last Updated: 1 Nov 2014

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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 "Revesz syndrome" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

http://www.dcoutreach.com

Last Updated: 1 Nov 2014

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General Support Organizations

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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 "Revesz 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 "Revesz 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

Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Hoyeraal Hreidarsson Syndrome; Revesz Syndrome; Aplastic Anemia

 

Last Updated: 21 Jul 2017

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