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Guizar–Vasquez–Sanchez–Manzano syndrome
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Guizar-Vazquez-Sanchez-Manzano syndrome | |
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Other names | Dysmorphism-pectus carinatum-joint laxity syndrome |
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.