Schinzel–Giedion syndrome
From Infogalactic: the planetary knowledge core
Schinzel–Giedion syndrome | |
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 269150 |
DiseasesDB | 32570 |
Patient UK | Schinzel–Giedion syndrome |
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?
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- www.sindromeschinzelgiedion.net
- OMIM entry on Schinzel-Giedion Midface Retraction Syndrom
- Schinzel-Giedion.org
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