Table 5.

Classic Ehlers-Danlos Syndrome: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Skin Clinical exam of skin w/assessment of skin hyperextensibility, atrophic scars & bruises, & other manifestations of cEDS
Joints Eval of joint mobility w/Beighton score
Neurologic Eval for hypotonia & motor development in infants & children
Hematologic
  • Assessment for easy bruising &/or prolonged bleeding
  • Eval of clotting factors (platelet count, aPTT, PT, thrombin time) if severe easy bruising is present
Cardiovascular Echocardiogram w/aortic diameter measurement
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of cEDS to facilitate medical & personal decision making

cEDS = classic Ehlers-Danlos syndrome; MOI = mode of inheritance; aPTT = activated partial thromboplastin time; PT = prothrombin time

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Classic Ehlers-Danlos Syndrome

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