Signs And Symptoms Of Ehlers-Danlos Syndrome

Distinctive Facial Features

Ehlers-Danlos syndrome patients with the vascular type may have distinctive facial features. It's common for vascular EDS to have protruding, large eyes, a small and underdeveloped chin, unusually sunken cheeks, lobeless ears, and a thin nose and lips. Almost all vascular EDS patients present with an abnormal oral frenulum, abnormal eyelashes, an absence of eyebrows, and a lack of earlobes or extremely small earlobes.

The distinctive facial features may be linked to the genetic cause of the disease. Vascular EDS typically occurs due to a mutation in a person's COL3A1 gene, and rare cases involve a mutation of the COL1A1 gene. The COL3A1 gene is responsible for instructions for making a particular component of collagen, which supports the structure of a person's body. The lack of this component leads to unusually small facial features that usually involve collagen-richness. The chin, cheekbones, and earlobes are all structured largely by collagen.

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