Clinical Manifestations of Connective Tissue Dysplasia

Diagnostic Criteria and Clinical Features

• The American College of Gastroenterology recommends that patients with hypermobile Ehlers-Danlos syndrome (hEDS) be diagnosed based on criteria that include joint hypermobility, pain, and other systemic features 1
• Patients with hEDS often have gastrointestinal symptoms, and almost 98% of patients with hEDS meet the diagnostic criteria for disorders of the gut-brain interaction 1
• The International Society for the Study of Ehlers-Danlos Syndrome recommends using the Beighton criteria to evaluate joint hypermobility, although this is not explicitly cited in the provided text, the presence of asthenic syndrome and kyphotic deformity of the spine (75%) is noted 1
• High-arched palate, joint hypermobility, and earlobe elasticity (63%) are also common features of connective tissue dysplasia 1
• Connective tissue in patients with dysplasia is softer and less rigid than normal, due to disorganization of collagen and elastin fibers 1