Schinzel Giedion syndrome
Common Name(s)
Schinzel Giedion syndrome, Schinzel-Giedion midface retraction syndrome
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Schinzel Giedion syndrome" for support, advocacy or research.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Schinzel Giedion syndrome" for support, advocacy or research.
Recommended Apps
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.
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.
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:
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 ...
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, ...
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, ...
To view other free, full-text articles on human participants, please click on the link below.
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:
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 ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/SETBP1
https://ghr.nlm.nih.gov/condition/acrocallosal-syndrome
https://ghr.nlm.nih.gov/gene/WNT7A
https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-ii
https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome
https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome
https://ghr.nlm.nih.gov/condition/trisomy-13
https://ghr.nlm.nih.gov/condition/kleefstra-syndrome
https://ghr.nlm.nih.gov/condition/usher-syndrome
https://ghr.nlm.nih.gov/condition/costello-syndrome
https://ghr.nlm.nih.gov/condition/narcolepsy
https://ghr.nlm.nih.gov/condition/roberts-syndrome
https://ghr.nlm.nih.gov/condition/fraser-syndrome
https://ghr.nlm.nih.gov/condition/donohue-syndrome
https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia
https://ghr.nlm.nih.gov/condition/branchiootorenal-branchiootic-syndrome
https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome
https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome
https://ghr.nlm.nih.gov/condition/megacystis-microcolon-intestinal-hypoperistalsis-syndrome
There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.

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.