What are the clinical manifestations and diagnostic criteria on physical examination for Ehlers-Danlos Syndrome (EDS)?

From the Guidelines

Ehlers-Danlos syndrome (EDS) is diagnosed through specific clinical manifestations and physical examination findings, with a diagnosis of hypermobility type established when a patient meets the criteria of a score of 5 or more on the 9-point Beighton scale, has soft or velvety skin with normal or slightly increased extensibility, and lacks skin or soft tissue fragility. The Beighton scale assesses joint hypermobility through various maneuvers, including passive dorsiflexion of each fifth finger >90 degrees, passive apposition of each thumb to the flexor surface of the forearm, hyperextension of each elbow >10 degrees, hyperextension of each knee >10 degrees, and the ability to place palms flat on the floor when bending over with knees fully extended 1. Key findings on physical exam for EDS, hypermobility type, include:

• Joint hypermobility confirmed by a score of 5 or more on the 9-point Beighton scale
• Soft or velvety skin with normal or slightly increased extensibility
• Absence of skin or soft tissue fragility, which is suggestive of other EDS subtypes. The diagnosis of EDS requires a comprehensive approach, combining these physical findings with a thorough evaluation of the patient's symptoms and medical history, as noted in the evaluation of the adolescent or adult with some features of marfan syndrome 1.

From the Research

Clinical Manifestations of Ehlers-Danlos Syndrome

The clinical manifestations of Ehlers-Danlos syndrome (EDS) include:

• Skin hyperextensibility 2, 3, 4, 5, 6
• Joint hypermobility 2, 3, 4, 5, 6
• Tissue fragility 2, 3, 4, 5, 6
• Easy bruising 2, 5
• Abnormal cutaneous texture (doughy/velvety, soft, thin, and/or variably hyperextensible skin) 5

Diagnostic Criteria

The diagnostic criteria for EDS include:

• Beighton score of more than 5 points 4
• Echocardiographic monitoring of aortic size and valvular condition 4
• Assessment of bone mineral density 4
• Positive family history 4
• Major and minor diagnostic criteria for each subtype, as defined by the 2017 International Classification of Ehlers-Danlos syndromes and related disorders 5, 6

Physical Exam Findings

Physical exam findings in patients with EDS may include:

• Skin fragility and tears 2
• Joint instability and hypermobility 2, 3, 4, 5, 6
• Osteoporosis 4
• Aortic root dilatation/valve prolapse 4
• Short stature 4
• Unstable gait 4
• Congenital hip dislocation 4
• Scoliosis 4
• Motor delay 4