Hyperlaxity

The so-called Danlos or Ehlers-Danlos syndrome consists of three symptoms: (1) pronounced fragility of the skin and its blood vessels, with breaking, splitting and the formation of hematomas and pseudotumors subsequent to the slightest trauma (dermatorrhexis-fragilitas cutis), (2) a more or less pronounced hyperlaxity and hyperelasticity of the skin (dermatochalasis-laxitas cutis) and (3) more or less pronounced hyperlaxity or hyperflexibility of the joints (arthrochalasis-laxitas articularis).

Other unique phenotypic features in our case were strabismus, severe oral apraxia, and joint hyperlaxity, which are all supposedly part of the phenotype of this de novo KCND3 mutation.