| Schinzel–Giedion syndrome | |
| Synonyms: | Schinzel–Giedion midface retraction syndrome[1] |
| Caption: | manner |
| Field: | neurology |
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] 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.
Genetic testing for mutations in SETBP1 gene can confirm a diagnosis.
Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima.[3]
Sleep apnea may also be present,
Most children with condition die before 2 years of age. 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. [4]
The longest documented survivor is 15 years old. Children with this condition who survive past infancy have a higher risk of developing tumors.
According to National Organization for Rare Disorders, the disorder is not inherited from the parents. 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.[5] [6] Although the occurrence of this disorder is thought to be higher.[7]
According to Orphanet, the condition occurs in 1 in 1 million people.[8]
The condition affects both males and females equally.[9]