There are over 200 Heritable Disorders of Connective Tissue (HCTDs). These conditions are heterogenous and can present with a multitude of pernicious signs and symptoms. 

HCTDs are not commonly associated with emergency medicine unless patients present with life-threatening emergencies such as arterial dissection, ruptured aneurysms, hollow organ rupture, or other urgent conditions such as joint dislocation. However, there is growing literature to suggest patients with HCTDs frequently present to emergency departments with a variety of other non-urgent complaints. There is a paucity of formal data on presentations relating to these conditions in emergency medicine. 

There is a lack of formal training in emergency medicine on how to recognise the clinical signs and history that could represent a possible HCTD. The authors present a case series of patients with known and possible HCTDs who presented with a variety of complaints including chest pain, syncope, spontaneous pneumothorax, severe dysmenorrhea, dysphagia, previous aortic dissection with chiari malformation. The authors propose a clinical tool for identification of HCTDs in the Emergency Department.