Print friendly version
Schinzel Giedion syndrome
Other Names for this Disease
- Schinzel Giedion midface-retraction syndrome
- Schinzel-Giedion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
- 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.
On this page
- 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.