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From SNPedia
Ehlers-Danlos Syndrome (EDS) type 4
Is agenotype
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.5 Ehlers-Danlos Syndrome (EDS) type 4

This is a genotype with recommended actions if clinically confirmed. In brief:

  • EDS type IV, or vascular EDS, is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility.
  • Invasive procedures (such as colonoscopies and arteriograms) should be avoided except in life-threatening situations.
  • Affected individuals are instructed to seek immediate medical attention for sudden, unexplained pain.
  • Educating pregnant women with EDS type IV about possible complications and frequent surveillance in a high-risk obstetrical program is recommended.
  • A MedicAlert bracelet should be worn.
  • Individuals with EDS type IV should not engage in any competitive athletic activity.

The full ClinGen Actionability report about Ehlers-Danlos Syndrome (EDS) type IV can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.