Potocki-Shaffer syndrome

Common Name(s)

Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, and problems with vision. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short arm of chromosome 11.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Potocki-Shaffer syndrome" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

Last Updated: 12 Dec 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Potocki-Shaffer syndrome" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

http://www.wagr.org

Last Updated: 12 Dec 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Potocki-Shaffer syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
 

Author(s): Hyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V Levin, Bernd F Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H Elsea, Ethylin Wang Jabs, Marcy E MacDonald, David J Harris, Bradley J Quade, Hans-Hilger Ropers, Lisa G Shaffer, Kerstin Kutsche, Lawrence C Layman, Niels Tommerup, Vera M Kalscheuer, Yang Shi, Cynthia C Morton, Cheol-Hee Kim, James F Gusella

Journal: Am. J. Hum. Genet.. 2012 Jul;91(1):56-72.

 

Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of ...

Last Updated: 16 Jul 2012

Go To URL
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
 

Author(s): Keiko Wakui, Giuliana Gregato, Blake C Ballif, Caron D Glotzbach, Kristen A Bailey, Pao-Lin Kuo, Whui-Chen Sue, Leslie J Sheffield, Mira Irons, Enrique G Gomez, Jacqueline T Hecht, Lorraine Potocki, Lisa G Shaffer

Journal: Eur. J. Hum. Genet.. 2005 May;13(5):528-40.

 

Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11[del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, ...

Last Updated: 26 Apr 2005

Go To URL

Reviews from the PubMed Database

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

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.