Schinzel–Giedion syndrome


Schinzel–Giedion syndrome is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel and Andreas Giedion as a syndrome with severe midface retraction, skull anomalies, renal anomalies and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation and global developmental delay.