ContentsSynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Ehlers-Danlos syndrome type 4
Other Resources UpToDate PubMed

Ehlers-Danlos syndrome type 4

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Other Resources UpToDate PubMed


Ehlers-Danlos syndrome encompasses a heterogeneous group of inherited connective tissue disorders caused by defects in collagen. It affects the skin, joints, and blood vessels leading to skin hyper-extensibility, fragility, bruisability, poor wound healing, joint hypermobility, and chronic joint pain. Type 4 is autosomal dominant. Bruisability is a prominent feature, but other classic manifestations are often less severe. However, it is considered the most malignant form, as patients are at risk for spontaneous rupture of bowel and large arteries.

For more information, see OMIM.


Q79.6 – Ehlers-Danlos syndrome

17025000 – Ehlers-Danlos Syndrome, Type 4

Differential Diagnosis & Pitfalls

  • Loeys-Dietz syndrome (typically includes cleft palate and bifid uvula, which Ehlers-Danlos syndrome does not)
  • Arterial tortuosity syndrome (can test for abnormalities in SLC2A10 gene)
  • Marfan syndrome
  • Cutis laxa

Best Tests

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Last Updated: 03/29/2017
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Ehlers-Danlos syndrome type 4
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Ehlers-Danlos syndrome type 4 : Easy bruising, Hyperextensible skin, Joint hypermobility
Copyright © 2020 VisualDx®. All rights reserved.