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

Ehlers-Danlos syndrome type 4

Print Images (1)
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
Q79.6 – Ehlers-Danlos syndrome

SNOMEDCT:
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

Subscription Required

References

Subscription Required

Last Updated: 03/29/2017
Copyright © 2019 VisualDx®. All rights reserved.
Ehlers-Danlos syndrome type 4
Print 1 Images
Ehlers-Danlos syndrome type 4 : Easy bruising, Hyperextensible skin, Joint hypermobility
Copyright © 2019 VisualDx®. All rights reserved.