Schinzel–Giedion syndrome
| Schinzel–Giedion syndrome | |
|---|---|
| Other names: Schinzel–Giedion midface retraction syndrome[1] | |
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| This condition is inherited in an autosomal dominant manner | |
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| Specialty | Neurology |
Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–)[2][3] 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.
on:f0001: a-b) Schinzel-Giedion syndrome- tall fore head, hypertelorism, microtic protruded ear
See also
- SETBP1
References
- ↑ "OMIM Entry - # 269150 - SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME". omim.org. Archived from the original on 2019-12-24. Retrieved 2019-12-24.
- ↑ 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. doi:10.1002/ajmg.1320010402. PMID 665725.
External links
| Classification |
|---|
- OMIM entry on Schinzel–Giedion midface retraction syndrome Archived 2018-09-26 at the Wayback Machine
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