Guizar–Vasquez–Sanchez–Manzano syndrome explained

Guizar-Vazquez-Sanchez-Manzano syndrome
Synonyms:Dysmorphism-pectus carinatum-joint laxity syndrome[1]
Specialty:Medical genetics
Frequency:Extremely rare, only two cases have ever been reported

Guizar-Vasquez-Sanchez-Manzano syndrome is an extremely rare genetic and congenital disorder that is characterized by facial dysmorphisms (more specifically, chubby cheeks, mild frontal bossing, a beaked nose with an accompanying low nasal bridge, malar hypoplasia, peculiar philtrums and upper lips), pectus carinatum, and joint hypermobility. Only 2 cases have ever been reported in medical literature, with both of those cases coming from siblings of the same family.[2] [3] [4]

Notes and References

  1. Web site: Guizar Vasquez Sanchez Manzano syndrome — National Organization for Rare Disorders . National Organization for Rare Disorders . June 16, 2022 . October 10, 2023.
  2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Dysmorphism pectus carinatum joint laxity syndrome . 2022-05-04 . www.orpha.net . en.
  3. Web site: Guizar vasquez sanchez manzano syndrome (medical condition) . Chemwatch . December 16, 2020 . October 10, 2023.
  4. Web site: Research Articles, Drugs, Genes, Clinical Trials . Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome disease: Malacards . October 10, 2023.

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