5th June 2025

Clinical features & Pathophysiology

The specific signs and symptoms and their severity depends on the EDS subtype and also on the individual – some individuals are asymptomatic or only develop minor symptoms, whereas others can experience significant complications. The features generally seen in all subtypes are related to the connective tissue abnormality – ligament laxity leads to hypermobility, resulting fragility of tissues leads to easy bruising and impaired healing can be seen with atrophic scars. 

Other clinical features include:

• Translucent skin with underlying vessels and/or tendons easily visible  Image Source: Wikimedia Commons (2013). Stomach blood supply, Licensed under a creative commons licence. Available for free at: https://commons.wikimedia.org/wiki/File:PMC3567970_1752-1947-7-35-1_(cropped).png (Accessed 19 May 2025).
• Soft skin with a velvet feel
• Hyperelastic skin  Image Source: Wikimedia Commons (2012). Hyperelastic Skin in a case of Ehlers-Danlos Syndrome, Licensed under a creative commons licence. Available for free at: https://commons.wikimedia.org/wiki/File:Hyperelastic_skin_in_a_case_of_Ehlers-Danlos_syndrome_(cropped).png (Accessed 19 May 2025).
• Atrophic scars Image Source: Wikimedia Commons (2012). Atrophic Scar of Ehlers-Danlos Syndrome, Licensed under a creative commons licence. Available for free at: https://commons.wikimedia.org/wiki/File:Atrophic_scar_of_Ehlers_Danlos_syndrome.jpg (Accessed 19 May 2025).
• Molluscoid pseudotumours, fleshy calcified lesions that form at pressure points
• Subcutaneous spheroids, former fat cells that lose their blood supply and become calcified, seen on forearms and shins
• Easy bruising
• Generalised hypermobility
• Recurrent joint dislocation
• Hypotonia
• Congenital or early-onset kyphoscoliosis
• Congenital talipes equinovarus (clubfoot), feet point downwards and inwards
• Arachnodactyly
• Thin cornea
• Autonomic dysfunction resulting in palpitations, postural hypotension, dizziness, chest pain, shortness of breath
• Motor delay in infancy – once walking initiated, motor delay resolves
• Chronic pain
• Fatigue
• History of delayed onset to local anaesthetic – seen in two thirds of patients
• Presence of hernias
• Non-specific GI signs
• Pneumothorax
• Heart murmur