Explore 12 Rare Subtypes of EDS

There are 12 monogenic subtypes of EDS. They are classified based on clinical features, genes affected, and pattern of inheritance. Learn more below:

Arthrochalasia EDS

GENES:

COL1A1, COL1A2

INHERITANCE:

Autosomal dominant: one pathogenic copy of the changed gene is enough to cause the condition.

Brittle Cornea Syndrome (BCS)

GENES:

ZNF469, PRDM5

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene. These genes affect the connective tissue that supports the eyes.

Cardiac-Valvular EDS (CVEDS)

GENES:

COL1A2

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Classical EDS

GENES:

COL5A1, COL5A2 (rarely COL1A1)

INHERITANCE:

Autosomal dominant: a change in one pathogenic copy of the gene is enough to cause the condition.

Classical-like EDS (clEDS)

GENES:

TNXB (Type I) or AEBP1 (Type II)

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Type I:

Differences in the shape or positioning of hands and feet, including curved fingers/toes and changes in foot arch and alignment
Muscle weakness
Axonal polyneuropathy (a condition affecting many peripheral nerves at once, causing numbness, tingling, and weakness, usually beginning in the hands and feet)
Gastrointestinal fragility (prone to tears) and vascular fragility (blood vessels weaker than usual and more prone to bruising, bleeding, and injury)
Purpura (purple or red spots and patches that appear when small blood vessels leak under the skin)
Edema (swelling from fluid buildup in body tissues, often noticed in ankles, feet, and legs

Type II:

Cardiovascular disease (conditions affecting the heart and blood vessels)
Hair loss
Reduced bone density
GI issues

Dermatosparaxis EDS

GENES:

ADAMTS2

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Kyphoscoliotic EDS (kEDS)

GENES:

PLOD1, FKBP14

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Foot-shape differences such as club foot (the foot is turned inward)
Atrophic scars (wide, sunken scars from poor healing)
Arterial aneurysms– Bulges that form in the walls of arteries
Tall, slender build with long limbs, fingers, and toes relative to the body
Lower bone density than usual
Hearing loss (FKBP14-kEDS)

Fragile, thin corneas (the clear front part of the eye)
Changes in the shape of the cornea that affect vision
Eyes that look slightly blue-tinted

Musculocontractural EDS (MC-EDS)

GENES:

CHST14, DSE

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Myopathic EDS (mEDS)

GENES:

COL12A1

INHERITANCE:

Can run in families (autosomal dominant) or need two changed copies of the gene (autosomal recessive).

Periodontal EDS (pEDS)

GENES:

C1R, C1S

INHERITANCE:

Autosomal dominant: one pathogenic copy of the changed gene is enough to cause the condition.

Spondylodysplastic EDS (spEDS)

GENES:

B4GALT7, B3GALT6, SLC39A13

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Vascular EDS (VEDS)

GENES:

COL3A1 (rarely COL1A1)

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Arterial aneurysm (abnormal bulge in weakened section of an artery wall at risk of tearing or bursting), arterial dissection (a tear between layers of the wall), and arterial rupture (a break through the artery wall), often before age 40
Family history of VEDS or sudden death to to arterial dissection or rupture
Fragile hollow organs (bowels and uterus) at risk of rupturing
Gastrointestinal rupture - a tear In the wall of the digestive tract, often the large bowel
Uterine rupture during the third trimester of pregnancy

Arteriovenous carotid cavernous sinus fistula – a sudden engorgement and redness of the eye
Thin, often see-through skin with visible veins, easy bruising
Organ prolapse, (when an organ slips downward from its usual position due to weakened connective tissue); prolapse can occur with bowel, bladder, uterus or rectum
Acrogeria (Premature aging of skin on hands and feet)
Joint hypermobility specifically in fingers and toes, rather than generalized hypermobility seen in many other subtypes
Distinctive facial features in some people
Varicose veins that develop at a younger age than usual