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 2 free, full-text research articles on human participants. First 3 results:

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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Neurosonography and pathology in the Schinzel-Giedion syndrome.
 

Author(s): A C Maclennan, D Doyle, R M Simpson

Journal: J. Med. Genet.. 1991 Aug;28(8):547-9.

 

We describe a case of the Schinzel-Giedion syndrome, where increasing ventriculomegaly, intraventricular bands, and subependymal pseudocysts were shown by ultrasound of the head. Subsequent neuropathology confirmed the hydrocephalus.

Last Updated: 8 Nov 1991

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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 1 free, full-text review articles on human participants. First 3 results:

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.