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]
| Guizar-Vazquez-Sanchez-Manzano syndrome | |
|---|---|
| Other names | Dysmorphism-pectus carinatum-joint laxity syndrome[1] |
| Specialty | Medical genetics |
| Frequency | Extremely rare, only two cases have ever been reported |
References
edit- ^ "Guizar Vasquez Sanchez Manzano syndrome — National Organization for Rare Disorders". National Organization for Rare Disorders. June 16, 2022. Retrieved October 10, 2023.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Dysmorphism pectus carinatum joint laxity syndrome". www.orpha.net. Retrieved 2022-05-04.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Guizar vasquez sanchez manzano syndrome (medical condition)". Chemwatch. December 16, 2020. Retrieved October 10, 2023.
- ^ "Research Articles, Drugs, Genes, Clinical Trials". Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome disease: Malacards. Retrieved October 10, 2023.
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