Ehlers-Danlos syndrome (EDS)
Ehlers-Danlos syndrome (EDS) is a diverse group of inherited connective tissue disorders, characterized by joint hypermobility, stretchy skin and fragile tissue. There are multiple types of EDS. The different types are classified according to their features and symptoms. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with one type of EDS will not have a child with a different type. However, EDS can affect members of the same family differently with some being more severely affected than others even though they all have the same type of EDS.
Unfortunately, there is no cure for any of the types of EDS. Treatment depends on the type of EDS, symptoms, and related medical conditions. Individuals with EDS should speak with their healthcare providers about personalized treatment recommendations. People with EDS should avoid activities that are hard on the joints such as running or aerobics. Low impact activities that strengthen the muscles around the joints can be helpful.
Some types of EDS are inherited in an autosomal dominant pattern. This means that each child of a parent with EDS has a 50% chance of inheriting the genetic mutation associated with the condition.
Some types of EDS follow an autosomal recessive inheritance pattern. In this pattern, EDS is due to two gene mutations, one that has been inherited from each parent. The siblings of an individual with autosomal recessive EDS each have a 25% chance of having the condition.
In both autosomal dominant and recessive inheritance, the chance of inheriting a gene mutation is the same for men and women.
The specific genes associated with EDS are known for some of the types but not all. Genetic testing may be available depending upon what type of EDS in the family. If the gene alteration causing EDS in a family has been identified, other family members can have genetic testing to determine if they and their children are at risk for the condition.
The genes associated with many types of EDS have not been identified so genetic testing cannot be done to make a diagnosis or determine if family members are at risk. At this time, most types of EDS are diagnosed clinically by having a genetic evaluation. We hope to identify more genes responsible for EDS as our knowledge in genetics improves over time.
Since EDS is an inherited condition, the family members of someone who has the condition may be at risk for symptoms and related medical problems. Close relatives (parents, siblings, and children) of someone with EDS should be evaluated for the condition by consulting a geneticist or considering genetic testing if the gene mutation associated with the condition in the family has been found.
Medical geneticist and genetic counselors are experts in genetic syndromes such as EDS. Individuals can be evaluated in the Marfan clinic at UCSF by calling (415) 353-2554. Genetics providers at other hospitals can be located by searching on this website.
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