| Ehlers-Danlos Syndrome (EDS) classic type |
| Geno
|
Mag
|
Summary
|
| (A;G)
|
5.5
|
Ehlers-Danlos Syndrome (EDS) classic type
|
| (G;G)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Classic Ehlers-Danlos Syndrome (EDS), known previously as either EDS type I or II, is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, joint hypermobility, and a wide variety of other problems. EDS is based on mutations in either the COL5A1 or COL5A2 genes.
- Due to the risk of skin lacerations, postpartum hemorrhages, and prolapse of the uterus and/or bladder, monitoring of women throughout pregnancy and in the postpartum period is recommended.
- Several recommendations are available for wound closure and surgeries.
- Bone mineral density scans (DEXA) should be considered in all adults with EDS.
- At routine physician visits, patients should be evaluated for gastrointestinal symptoms, sleep difficulties, pain and headache, and symptoms of depression and anxiety.
- Individuals should avoid (1) sports with heavy joint strain such as competitive and contact sport activities and activities that cause joints to overextend (e.g., pitching, gymnastics), (2) aspirin, (3) too much sun, (4) scar reversion/vanishing products.
The full ClinGen Actionability report about Ehlers-Danlos Syndrome (EDS), classic type, 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.
