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Schinzel Giedion syndrome
Other Names for this Disease
- Schinzel Giedion midface-retraction syndrome
- Schinzel-Giedion syndrome
- SGS
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Overview
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.[1][2][3] Recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children.[4] The underlying genetic defect that causes the condition has not yet been identified.
References
- Minn et al.. Further Clinical and Sensorial Delineation of Schinzel-Giedion Syndrome: Report of Two Cases. American Journal of Medical Genetics. 2002.
- Rr. P. Labrune. Schinzel-Giedion midface retraction syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=798. Accessed October 30, 2008.
- In: Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck, 4th ed. 2001.
- Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Clinical Report Schinzel-Giedion Syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria. American Journal of Medical Genetics. 2008.
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General Information
- Genetics Home Reference (GHR) contains information on Schinzel Giedion syndrome. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Schinzel Giedion syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Schinzel Giedion syndrome. Click on the link to go to OMIM and review these resources.