Medicine:Guizar–Vasquez–Sanchez–Manzano syndrome

From HandWiki
Guizar-Vazquez-Sanchez-Manzano syndrome
Other namesDysmorphism-pectus carinatum-joint laxity syndrome[1]
SpecialtyMedical genetics
FrequencyExtremely 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]

References

  1. ↑ "Guizar Vasquez Sanchez Manzano syndrome — National Organization for Rare Disorders". June 16, 2022. https://rarediseases.org/gard-rare-disease/guizar-vasquez-sanchez-manzano-syndrome/. 
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Dysmorphism pectus carinatum joint laxity syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104. 
  3. ↑ "Guizar vasquez sanchez manzano syndrome (medical condition)". December 16, 2020. https://chemwatch.net/resource-center/guizar-vasquez-sanchez-manzano-syndrome-medical-condition/. 
  4. ↑ "Research Articles, Drugs, Genes, Clinical Trials". https://previous.malacards.org/card/dysmorphism_pectus_carinatum_joint_laxity_syndrome?search=Dysmorphism-pectus%20carinatum-joint%20laxity%20syndrome. 




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