You are here

EDS Types

There are six major types of EDS:

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by various defects in the synthesis of collagen. EDS is known to affect men and women of all racial and ethnic backgrounds.

There are six distinct types of EDS currently identified. All share joint laxity, soft skin, easy bruising, and some systemic manifestations. Each type is thought to involve a unique defect in connective tissue, although not all of the genes responsible for causing EDS have been found.

These six types are defined according to the signs and symptoms that are manifested, in a set of major and minor diagnostic criteria for each type. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not normally have a child with Classical Type EDS. There a number of mutations identified as Ehlers-Danlos syndromes since the 1997 diagnostic criteria; these lie outside the classifications and can be located through the OMIM/Online Mendelian Inheritance in Man® database from Johns Hopkins University. More detailed information can be found in our Medical Professionals Section.

Hypermobility Type

Type III) Most common type

Genetic Information: To date, no distinctive biochemical collagen finding has been identified by researchers. Inherited in an autosomal dominant manner.

More | Hypermobility FAQs

Classical Type

(Type I & II) Occasional internal organ fragility

Genetic Information: In some families type V collagen is affected (abnormal electrophoretic mobility of proa1(V) or proa2(V) chains) as well as type I. Inherited in an autosomal dominant or recessive manner.

More | Classical FAQ

Vascular Type

(Type IV) Fragility of arteries, intestines & other internal organs

Genetic Information: Caused by structural defects in the proa1(III) chain of collagen type III, encoded by the COL3A1 gene. Inherited in an autosomal dominant manner. VEDS incidence is estimated at one in 250,000; particularly serious because of possible arterial or organ rupture. See EDNF’s Vascular EDS Medical Resource Guide and Clinic Reference Manual: Vascular Type.

More | Vascular (VEDS) FAQ

Kyphoscoliosis, Type

(Type VI) Very rare; kyphoscoliosis, hypotonia, fragility of eyes and arteries

Genetic Information: Result of a deficiency of lysyl hydroxylase (procollagen-lysine 5-dioxygenase, or PLOD), which is a collagen-modifying enzyme. Inherited in an autosomal recessive manner. Can be diagnosed through urine test.

More | Kyphoscoliosis FAQ

Arthrochalasia,Type

(Type VII-A&B) Very rare

Genetic Information: Caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. Inherited in an autosomal dominant manner. Can also be diagnosed by skin biopsy.

More | Arthrochalasia FAQ

Dermatosparaxis Type

(Type VII-C) Very rare

Genetic Information: Caused by a deficiency of procollagen I N-terminal peptidase. Inherited in an autosomal recessive manner. Can be diagnosed by skin biopsy.

The types may appear clear and defined, but EDS rarely permits easy classification. Although the type almost always runs true within each family, the symptoms of individual family members can vary so widely from each other that EDS is either misdiagnosed or ignored, and therefore is probably more frequent than previously thought. Current research estimates incidence at one in 2,500 to 5,000.

More | Dermatosparaxis FAQ

Creating Knowledge
Building Community
Promoting Change