Schinzel-Giedion syndrome
MONDO:0010010
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
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Schinzel–Giedion syndrome
Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. It is caused by mutations of the SETBP1 gene. Children with Schinzel–Giedion syndrome have characteristic facial features, neurological problems, severe developmental delay, and often bone and organ abnormalities. The disorder is classified into two types: classical and atypical. Classical SGS is caused by gain-of-function mutations in the mutational hot spot of the SETBP1 gene, and is associated with severe clinical symptoms. Atypical SGS is caused by gain-of-function mutations adjacent to (but not within) the mutational hot spot of the gene, and is associated with milder symptoms.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.