Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome

The diagnosis of Ehlers-Danlos syndrome is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for identifying patients with Ehlers-Danlos syndrome. Absence of the inferior labial (100% sensitivity; 99·4% specificity) and lingual frenulum (71·4% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of Ehlers-Danlos syndrome.