Schinzel–Giedion syndrome (SGS) is a congenitalneurodegenerative 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]
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]
CausesEdit
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.
EpidemiologyEdit
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]
^Schinzel A, Giedion A (1978). "A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs". Am. J. Med. Genet. 1 (4): 361–75. doi:10.1002/ajmg.1320010402. PMID 665725.
^ abc"Schinzel Giedion Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-11-05.
^"Schinzel Giedion syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-11-05.
^ abJones, Kenneth Lyons; Jones, Marilyn Crandall; Campo, Miguel del (2021-03-02). Smith's Recognizable Patterns of Human Malformation - E-Book. Elsevier Health Sciences. ISBN978-0-323-63883-8.
^Name (2021-02-10). "Research grant of over 2 Million Euros offers new hope for children with rare condition Schinzel-Giedion Syndrome". ACNR | Paper & Online Neurology Journal. Retrieved 2021-11-05.
OMIM entry on Schinzel–Giedion midface retraction syndrome
August 28, 2023
schinzel, giedion, syndrome, congenital, neurodegenerative, terminal, syndrome, first, described, 1978, albert, schinzel, 1944, andreas, giedion, 1925, syndrome, with, severe, midface, retraction, skull, anomalies, renal, anomalies, hydronephrosis, other, anom. 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 Schinzel Giedion syndromeOther namesSchinzel Giedion midface retraction syndrome 1 SpecialtyNeurology Contents 1 Diagnosis 2 Symptoms 3 Prognosis 4 Causes 5 Epidemiology 6 See also 7 References 8 External linksDiagnosis EditThis section needs expansion You can help by adding to it November 2021 Genetic testing for mutations in SETBP1 gene can confirm a diagnosis 4 Symptoms EditThis 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 Prognosis EditMost 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 Causes EditAccording 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 Epidemiology EditThe 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 See also EditSETBP1References Edit OMIM Entry 269150 SCHINZEL GIEDION MIDFACE RETRACTION SYNDROME omim org Retrieved 2019 12 24 synd 1866 at Who Named It Schinzel A Giedion A 1978 A syndrome of severe midface retraction multiple skull anomalies clubfeet and cardiac and renal malformations in sibs Am J Med Genet 1 4 361 75 doi 10 1002 ajmg 1320010402 PMID 665725 a b c Schinzel Giedion Syndrome NORD National Organization for Rare Disorders Retrieved 2021 11 05 Schinzel Giedion syndrome Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Retrieved 2021 11 05 a b Jones Kenneth Lyons Jones Marilyn Crandall Campo Miguel del 2021 03 02 Smith s Recognizable Patterns of Human Malformation E Book Elsevier Health Sciences ISBN 978 0 323 63883 8 a b Liu Dongyou 2020 05 08 Handbook of Tumor Syndromes CRC Press ISBN 978 1 351 18741 1 a b Schinzel Giedion syndrome MedlinePlus Genetics medlineplus gov Retrieved 2021 11 05 Name 2021 02 10 Research grant of over 2 Million Euros offers new hope for children with rare condition Schinzel Giedion Syndrome ACNR Paper amp Online Neurology Journal Retrieved 2021 11 05 RESERVED INSERM US14 ALL RIGHTS Orphanet Schinzel Giedion syndrome www orpha net Retrieved 2021 11 05 External links EditOMIM entry on Schinzel Giedion midface retraction syndrome Retrieved from https en wikipedia org w index php title Schinzel Giedion syndrome amp oldid 1073333221, wikipedia, wiki, book, books, library,
