Schinzel–Giedion syndrome

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.

Schinzel–Giedion syndrome
Other names	Schinzel–Giedion midface retraction syndrome[1]
This condition is inherited in an autosomal dominant manner
Specialty	Neurology

See also

• SETBP1

References

1. "OMIM Entry - # 269150 - SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME". omim.org. Retrieved 2019-12-24.
2. synd/1866 at Who Named It?
3. 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	D OMIM: 269150 MeSH: C536632 DiseasesDB: 32570

• OMIM entry on Schinzel–Giedion midface retraction syndrome