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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome

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Inheritance

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Is Ehlers-Danlos syndrome inherited?

The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance.[1][2] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these subtypes has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

The dermatosparaxis and kyphoscoliosis types of EDS are inherited in an autosomal recessive pattern.[1][2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 5/21/2015

References
  1. Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 15, 2013; http://emedicine.medscape.com/article/943567-overview.
  2. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.


Other Names for this Disease
  • ED syndrome
  • EDS
  • Ehlers Danlos syndrome
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