| Ehlers-Danlos Syndrome (EDS) type 4 |
| Geno
|
Mag
|
Summary
|
| (A;G)
|
6.5
|
Ehlers-Danlos Syndrome (EDS) type 4
|
| (C;G)
|
6.5
|
Ehlers-Danlos Syndrome (EDS) type 4
|
| (G;G)
|
0
|
common in clinvar
|
| (G;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.
