Peters plus syndrome

Common Name(s)

Peters plus syndrome

Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features.  The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities such as glaucoma and cataracts are common. The severity of symptoms may vary from person to person. The only gene that has been associated with Peters plus syndrome is B3GALTL. The syndrome is inherited in an autosomal recessive fashion. Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Peters plus syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
 

Author(s): Chad R Haldeman-Englert, Taiyabah Naeem, Elizabeth A Geiger, Ashley Warnock, Holly Feret, Melissa Ciano, Stefanie L Davidson, Matthew A Deardorff, Elaine H Zackai, Tamim H Shaikh

Journal: Am. J. Med. Genet. A. 2009 Aug;149A(8):1842-5.

 

Last Updated: 30 Jul 2009

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Mutation analysis of B3GALTL in Peters Plus syndrome.
 

Author(s): Linda M Reis, Rebecca C Tyler, Omar Abdul-Rahman, Pamela Trapane, Robert Wallerstein, Diane Broome, Jodi Hoffman, Aneal Khan, Christina Paradiso, Nitin Ron, Amanda Bergner, Elena V Semina

Journal: Am. J. Med. Genet. A. 2008 Oct;146A(20):2603-10.

 

Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the beta1,3-glucosyltransferase ...

Last Updated: 30 Sep 2008

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Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
 

Author(s): Daniel Hess, Jeremy J Keusch, Saskia A Lesnik Oberstein, Raoul C M Hennekam, Jan Hofsteenge

Journal: J. Biol. Chem.. 2008 Mar;283(12):7354-60.

 

Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or palate. It is caused by splice site mutations in what was thought to be a beta1,3-galactosyltransferase-like ...

Last Updated: 17 Mar 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Peters plus 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

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