Schinzel–Giedion syndrome
| Schinzel–Giedion syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 269150 |
| DiseasesDB | 32570 |
Schinzel–Giedion syndrome is a congenital neurodegenerative terminal syndrome. First described in 1978 by Dr. Albert Schinzel (1944- )and Dr. Andreas Giedion (1925- )[1][2] as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation (unless fed through a feeding tube) and global developmental delay.
See also
References
- ↑ synd/1866 at Who Named It?
- ↑ Schinzel A, Giedion A (1978). "A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs". Am. J. Med. Genet. 1 (4): 361–75. PMID 665725. doi:10.1002/ajmg.1320010402.
External links
- www.sindromeschinzelgiedion.net
- OMIM entry on Schinzel-Giedion Midface Retraction Syndrom
- Schinzel-Giedion.org
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