Types of Ehlers-Danlos Syndromes
Type | Symptoms |
|---|---|
Classical | Fragile skin Scars that appear sunken into the skin Extra-flexible joints |
Vascular | Fragile blood vessels that may bulge, separate, or rupture Easy bruising Rupture of organs including the colon, uterus, muscles, and tendons Air in the space that surrounds the lungs (pneumothorax) |
Arthrochalasia | Extremely flexible joints with dislocations Dislocated hip at birth (developmental dysplasia of the hip) Fragile tissues with scars that appear to be sunken into the skin |
Dermatosparaxis | Extremely fragile skin with loose, excessive skin and severe bruising Characteristic head and facial features (large soft spot between the skull bones in babies, inner corners of eyelids turn down, and bluish whites of the eyes) Short limbs |
Cardiac valvular | Severe heart valve leakage Extra-flexible joints |
Kyphoscoliotic | Reduced muscle tone (hypotonia) present at birth A humpback and curving of the spine (kyphoscoliosis) present at birth or early childhood Extra-flexible joints |
Classical-like | Stretchy, soft skin, but with no scars Foot deformities (broad front of the foot, short toes, flat arches, bunions, and raised spots on the heels) Leg swelling |
Myopathic | Reduced muscle tone (hypotonia) present at birth Tight joints that do not open fully Extra-flexible joints |
Musculocontractural | Multiple tight joints that do not open fully, present at birth Characteristic head and facial features (large soft spot between the skull bones in babies, inner corners of eyelids turn down, bluish whites of the eyes, and others) Fragile stretchy skin with easy bruising |
Spondylodysplastic | Short height that gets worse with age Muscle weakness Bowed (bent) limbs Some features of the spondylodysplastic type depend on the specific gene abnormality |
Brittle cornea syndrome | Cornea (front of the eye) is thin and can rupture, and the retina (back of the eye) can detach Hearing loss |
Periodontal | Severe gum disease with tooth loss (periodontitis) that begins early in childhood Discolored patches of skin on the shins Stretchy skin with easy bruising |
Hypermobile | Extra-flexible and unstable joints Chronic pain |
Classical-like type 2 (provisional)* | Scars that appear sunken into the skin Extra-flexible joints Foot deformities (broad front of the foot, short toes, flat arches, bunions, and raised spots on heels) Decreased bone density (osteopenia) |
* This type is not officially recognized. | |