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.

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 "Schinzel Giedion syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

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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Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.
 

Author(s): Lilian Maria José Albano, Paula Priscila Ohara Sakae, Marta Maria Galli Bozzo Mataloun, Clea Rodrigues Leone, Débora R Bertola, Chong Ae Kim

Journal: Rev Hosp Clin Fac Med Sao Paulo. 2004 Apr;59(2):89-92.

 

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic ...

Last Updated: 3 May 2004

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Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management.
 

Author(s): M E Cooke, L E Davidson, S L Livesey

Journal: Int J Paediatr Dent. 2002 Jan;12(1):66-72.

 

Schinzel-Giedion syndrome comprises multiple congenital anomalies. The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia. Two cases are presented in which the presence of specific craniofacial anomalies with bilateral ...

Last Updated: 20 Feb 2002

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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 "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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.