Schinzel-Giedion syndrome

Associate Editor-In-Chief:

Schinzel-Giedion syndrome is a congenital neurodegenerative terminal syndrome. First described in 1978 by Dr. Schinzel and Dr. Giedion 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;