Schinzel Giedion syndrome

Common Name(s)

Schinzel Giedion syndrome, Schinzel-Giedion midface retraction syndrome

Schinzel-Giedion syndrome is a rare genetic syndrome. Common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance. Recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children. The underlying genetic defect that causes the condition has not yet been identified.
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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 "Schinzel Giedion 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

Not finding the support you need? Show General Support Organizations

 
 
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Recommended Apps

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.

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Schinzel Giedion syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
 

Author(s): Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

Journal:

 

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this ...

Last Updated: 27 Mar 2017

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[Schinzel-Giedion syndrome: a new mutation in SETBP1].
 

Author(s): V López-González, M R Domingo-Jiménez, L Burglen, M J Ballesta-Martínez, S Whalen, J A Piñero-Fernández, E Guillén-Navarro

Journal: An Pediatr (Barc). 2015 Jan;82(1):e12-6.

 

Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, ...

Last Updated: 2 Jan 2015

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Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome.
 

Author(s): Fumi Matsumoto, Akira Tohda, Kenji Shimada, Nobuhiko Okamoto

Journal: Int. J. Urol.. 2005 Dec;12(12):1061-2.

 

We report the first case of malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of an 8-year-old girl with Schinzel-Giedion syndrome. Although conservative treatment has been regarded as the standard management for asymptomatic multicystic dysplastic kidney, ...

Last Updated: 13 Jan 2006

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To view other free, full-text articles on human participants, please click on the link below.

PubMed Article Results at NCBI: 6 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Schinzel Giedion syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Schinzel-Giedion syndrome.
 

Author(s): H Touge, T Fujinaga, M Okuda, H Aoshi

Journal: Int. J. Urol.. 2001 May;8(5):237-41.

 

A 2-month-old girl was brought to the Department of Pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month of age. She was the third child of young healthy non-consanguineous parents whose first son was healthy but whose second son had died of 18 trisomy. Physical ...

Last Updated: 30 Apr 2001

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The Schinzel-Giedion syndrome.
 

Author(s): L I al-Gazali, P Farndon, J Burn, D B Flannery, C Davison, R F Mueller

Journal: J. Med. Genet.. 1990 Jan;27(1):42-7.

 

Last Updated: 2 Apr 1990

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To view other free, full-text review articles on human participants, please click on the link below.

PubMed Review Results at NCBI: 2 review(s)

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/schinzel-giedion-syndrome
https://ghr.nlm.nih.gov/gene/SETBP1
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Full Results at Genetics Home Reference: 1620 matches

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/C1849294
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Schinzel Giedion syndrome" (open studies are recruiting volunteers) and 0 "Schinzel Giedion syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Schinzel Giedion syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More