Schinzel–Giedion syndrome

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Schinzel–Giedion syndrome
Other names: Schinzel–Giedion midface retraction syndrome[1]
Autosomal dominant - en.svg
This condition is inherited in an autosomal dominant manner
SpecialtyNeurology

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.[citation needed]

on:f0001: a-b) Schinzel-Giedion syndrome- tall fore head, hypertelorism, microtic protruded ear

See also

References

  1. "OMIM Entry - # 269150 - SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME". omim.org. Archived from the original on 2019-12-24. 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.

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Classification