Schinzel-Giedion syndrome
Encyclopedia
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.
Hydronephrosis
Hydronephrosis is distension and dilation of the renal pelvis calyces, usually caused by obstruction of the free flow of urine from the kidney, leading to progressive atrophy of the kidney...
) and other anomalies (see Clinical Features). Babies born with Schinzel-Giedion syndrome have severe mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
, growth retardation (unless fed through a feeding tube) and global developmental delay.