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Symptoms
By Mayo Clinic staff
CLICK TO ENLARGE
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Loose joints associated with Ehlers-Danlos syndrome |
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Elastic skin associated with Ehlers-Danlos syndrome |
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Shin affected by Ehlers-Danlos syndrome |
The severity of signs and symptoms of Ehlers-Danlos syndrome can vary widely. Some people may experience greater difficulty than others do. In general, signs and symptoms include:
- Skin that's especially stretchy or fragile
- Hernias
- Abnormal wound healing, scars that stretch over time
- Flexible joints that extend beyond the normal range of movement
- Dislocations of your shoulder, knee, fingers, hip, wrist and collarbone
- Muscle weakness
- Delayed motor development
- Easy bruising
- Heart problems, such as mitral valve prolapse, aortic root dilatation and spontaneous rupture of large arteries
- Family history of ruptured uterus, colon or brain aneurysm
Ehlers-Danlos syndrome is divided into six major groups, based on specific diagnostic criteria:
Hypermobility type (formerly type III)
This is the most common form. It may affect as many as one in 10,000 to 15,000 people. Signs and symptoms include:
- Loose, unstable joints
- Soft, velvety skin
- Chronic degenerative joint disease
- Advanced premature osteoarthritis with chronic pain
- Heart valve problems (mitral valve prolapse)
Classical type (formerly types I and II)
This type probably affects about one in 20,000 to 40,000 people. Signs and symptoms include:
- Loose joints, which are prone to dislocation and may delay the development of large-motor skills, especially when a child starts to walk
- Highly elastic, velvety skin
- Fragile skin that bruises or tears easily
- Slow and poor wound healing leading to wide scarring
- Noncancerous fibrous growths on pressure areas, such as elbows and knees; fatty growths on the shins and forearms
- Hernias
- Heart valve problems (mitral valve prolapse)
Vascular type (formerly type IV)
This is one of the most serious forms of EDS. It affects an estimated one in 250,000 people. Signs and symptoms include:
- Fragile blood vessels and organs that are prone to tearing (rupture), causing complications such as a ruptured or dissected artery or an aneurysm, ruptured intestines or a ruptured uterus during pregnancy
- Thin, fragile skin that bruises easily
- Veins visible beneath the skin
- Characteristic facial appearance, including protruding eyes, thin nose and lips, sunken cheeks and small chin
- Loose joints, usually limited to the fingers and toes
Kyphoscoliosis type
This uncommon form has few cases reported worldwide. Signs and symptoms include:
- Progressive curvature of the spine (kyphoscoliosis) with respiratory problems, if severe
- Fragile eyes that are easily damaged or ruptured
- Muscle weakness
- Increased risk of rupture of medium-sized arteries
Arthrochalasis type
Arthrochalasis is rare. Only about 30 cases have been reported worldwide. Signs and symptoms include:
- Very loose joints and dislocation of both hips, present at birth
- Stretchy, fragile skin that's prone to bruising and scarring
- Early-onset arthritis
- Increased risk of bone loss and fracture
Dermatosparaxis type
This form is also rare, with only about a dozen cases reported worldwide. Signs and symptoms include:
- Extremely fragile and sagging skin
- Loose joints, which may delay development of motor skills in children
- Short stature
- Delayed closure of the fontanels, the soft areas at the top of a baby's head
- Characteristic facial appearance with swollen eyelids and a bluish tinge to the whites of the eyes
- Umbilical hernia
- Short fingers
Other types
There are other rare types of EDS. Some of these are so rare that they've only been described in a few families. In addition, the relationship of some of these types to the syndrome as a whole isn't well-defined.
