Ehlers-Danlos: An Overview
Ehler-Danlos syndrome (EDS) is a group of rare inherited conditions that affect the body’s connective tissue.
It affects 1 in 5000 people worldwide.
The connective tissues in the body include skin, blood vessels, bones, muscles, and other supporting tissues.
Any defect or abnormality in the connective tissue can cause signs and symptoms ranging from mildly loose joints to serious, life-threatening complications.
There are 13 types of Ehler-Danlos syndrome, but most are rare.
The most common type of EDS is hypermobile EDS. Others include classical EDS, vascular EDS, and kyphoscoliotic EDS.
The signs and symptoms of EDS depend upon its type.
There is no specific treatment for EDS, but signs and symptoms can be managed with the proper support and advice.
- Autosomal dominant (one faulty gene inherited from either parent is sufficient to cause the condition)
- Autosomal recessive (two faulty genes must be inherited from both parents to cause the condition)
Individuals with EDS can pass the same type of EDS to their children.
While the exact cause of EDS is unknown, at least 20 genes have been found to cause this condition.
Variants in the COL5A1 or COL5A2 genes and rarely COL1A1 can cause the classical type of EDS.
Does 23andMe Test For Ehlers-Danlos Syndrome?
Direct-to-consumer tests like 23andMe do not offer diagnostic testing for genetic conditions like EDS.
This is because they test for a very small number of single nucleotide polymorphisms (SNP) and cannot be used as a replacement for clinical genetic testing.
If you wish to test for a personal or family history of a genetic condition, it is best to consult a healthcare provider and opt for a more detailed gene testing service.
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- Ehler-Danlos syndrome (EDS) is a group of rare inherited conditions affecting the body’s connective tissue and occurs in 1 in 5000 people worldwide.
- There are around 13 types of EDS, with the hypermobile type being the most common.
- EDS is inherited either as an autosomal dominant or recessive type, and around 20 genes have been found to cause this condition.
- Direct-to-consumer tests like 23andMe cannot help diagnose conditions like EDS.
- If you have a family history of EDS, it is recommended to consult a healthcare provider and undergo clinical genetic testing.