Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–)^[2][3] as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation (unless fed through a feeding tube) and global developmental delay.^{[citation needed]}

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Genetic testing for mutations in SETBP1 gene can confirm a diagnosis.^[4]

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Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima.^[5]

Sleep apnea may also be present,

Most children with condition die before 2 years of age.^[6]: 306 With it being estimated that 50% will die before 2 years of age. Death during infancy is due to pneumonia, cardiac arrest, tumors, lung hypoplasia, or seizures. ^[7]

The longest documented survivor is 15 years old.^[7] Children with this condition who survive past infancy have a higher risk of developing tumors.^[8]

According to National Organization for Rare Disorders, the disorder is not inherited from the parents.^[4] It is caused by a new spontaneous mutation of the SETBP1 gene. The SETBP1 gene is a cancer promoting gene, and affected children who survive past three years of age are at risk for different types of cancer.

The exact prevalence of Schinzel-Giedion syndrome is unknown. But, about 50 to 80 cases have been reported in literature.^{[8][6]: 306} Although the occurrence of this disorder is thought to be higher.^[9]

According to Orphanet, the condition occurs in 1 in 1 million people.^[10]

The condition affects both males and females equally.^[4]

• SETBP1