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–)[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.

Schinzel–Giedion syndrome
Other namesSchinzel–Giedion midface retraction syndrome[1]
SpecialtyNeurology

Diagnosis

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

Symptoms

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

Sleep apnea may also be present,

Prognosis

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]

Causes

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.

Epidemiology

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]

See also

References
  1. "OMIM Entry - # 269150 - SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME". omim.org. Retrieved 2019-12-24.
  2. synd/1866 at Who Named It?
  3. 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.
  4. "Schinzel Giedion Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-11-05.
  5. "Schinzel Giedion syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-11-05.
  6. 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.
  7. Liu, Dongyou (2020-05-08). Handbook of Tumor Syndromes. CRC Press. ISBN 978-1-351-18741-1.
  8. "Schinzel-Giedion syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-11-05.
  9. 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.
  10. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Schinzel Giedion syndrome". www.orpha.net. Retrieved 2021-11-05.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.