Genetics 101

As Ehlers-Danlos Syndrome (EDS) is primarily considered an inherited genetic issue (some rare cases are from spontaneous genetic issues) it is likely family members will also have EDS and it may be passed on to future children.

We get genes from both our mother and father and our traits develop due to the interaction between these two sets of genes in us. EDS can be inherited in either a dominant or recessive way.

A dominant genetic disorder only requires a single abnormal gene to cause the condition. This can be inherited from either parent. This means a dominant genetic disorder has a 50/50 chance of being passed on to each subsequent child.

EDS dominant Types:

Classical Type (COL5A1 and COL5A2)

Vascular Type (COL3A1 or sometimes COL1A1)

Hypermobility Type (gene unknown)

Arthrochalasia (either COL1A1 or COL1A2)

Periodontal Type (C1r and C1s)

Myopathic Type (COL12A1 or FKBP14)* can also be recessive depending on the gene.

Recessive genetic disorders require two copies of the abnormal gene to produce the disorder. This requires both parents to pass on one copy of each of the genes. The risk of two parents with a recessive disorder both passing it on to a child is 25%. There is a 50% risk that one parent may pass on the gene and the child will be a carrier of the disorder but not affected by it. There is also a 25% chance the disorder will not be passed down at all.

EDS recessive Types:

Classical-like (TNXB)

Cardiac Vascular (COL1A2)

Dermatosoaraxis (ADAMTS2)

Kyphoscoliotic (PLOD1 or FKBP14)

Brittle Cornea Syndrome Type 1 (ZNF469) Type 2 (PRDM5)

Spondylodysplastic Type (SLC39A13 or B4GALT6)

Musculocontractural Type (CHST14 or DSE)

Myopathic Type (COL12A1 or FKBP14)* can also be dominant depending on the gene.

Some genetic conditions are sex-linked, which means they are attached to either X or Y, EDS is not considered a sex-linked gene so there is an equal risk for both males and females.

There is debate on whether one can have more than one type of EDS. There is no official consensus on this and more research is required.