Schinzel–Giedion syndrome

Schinzel–Giedion syndrome
Classification and external resources
OMIM 269150
DiseasesDB 32570

Schinzel-Giedion syndrome is a congenital neurodegenerative terminal syndrome. First described in 1978 by Dr. Schinzel and Dr. Giedion[1][2] as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies (see Clinical Features). 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

  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

Nucleus diseases
Telomere
Nucleolus
Centromere
Other
AAAS (Triple-A syndrome) · Laminopathy · SMC1A/SMC3 (Cornelia de Lange Syndrome) · SETBP1 (Schinzel–Giedion syndrome)
see also nucleus
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk