Schinzel–Giedion syndrome

From Wikipedia, the free encyclopedia
  (Redirected from Schinzel-Giedion syndrome)
Jump to navigation Jump to search
Schinzel–Giedion syndrome
Autosomal dominant - en.svg
This condition is inherited in an autosomal dominant manner

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[edit]

References[edit]

  1. ^ synd/1866 at Who Named It?
  2. ^ 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[edit]

Classification