SchinzelâGiedion syndrome | |
---|---|
Other names | SchinzelâGiedion midface retraction syndrome [1] |
Specialty | Neurology |
SchinzelâGiedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944â) and Andreas Giedion (1925â) [2] [3] as a syndrome with severe midface retraction, skull anomalies, renal anomalies ( hydronephrosis) and other anomalies. Babies born with SchinzelâGiedion syndrome have severe mental retardation, growth retardation (unless fed through a feeding tube) and global developmental delay.[ citation needed]
![]() | This section needs expansion. You can help by
adding to it. (November 2021) |
Genetic testing for mutations in SETBP1 gene can confirm a diagnosis. [4]
![]() | This section needs expansion with: There is a lot more to say on symptoms.. You can help by
adding to it. (November 2021) |
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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
SchinzelâGiedion syndrome | |
---|---|
Other names | SchinzelâGiedion midface retraction syndrome [1] |
Specialty | Neurology |
SchinzelâGiedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944â) and Andreas Giedion (1925â) [2] [3] as a syndrome with severe midface retraction, skull anomalies, renal anomalies ( hydronephrosis) and other anomalies. Babies born with SchinzelâGiedion syndrome have severe mental retardation, growth retardation (unless fed through a feeding tube) and global developmental delay.[ citation needed]
![]() | This section needs expansion. You can help by
adding to it. (November 2021) |
Genetic testing for mutations in SETBP1 gene can confirm a diagnosis. [4]
![]() | This section needs expansion with: There is a lot more to say on symptoms.. You can help by
adding to it. (November 2021) |
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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)