Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Schinzel-Giedion syndrome
Introduction
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;
External links
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Cafer Zorkun, M.D., Ph.D. [2]