EDS Subtypes and Symptoms
There are currently 13 different subtypes of Ehlers-Danlos syndrome, each with slightly different symptoms and clinical criteria to help guide diagnosis. Your signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit.
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The other criteria used in the assessment of EDS can be found on the Ehlers-Danlos society website.
Classical EDS
Major Criteria:
1) Skin Hyperextensibility
2) Atrophic Scarring
3) Generalized Joint Hypermobility (GJH), assessed with the Beighton Score
Classical-Like EDS
Major Criteria:
1) Skin Hyperextensibility with velvety skin texture
2) Absence of atrophic scarring
3) Generalized joint hypermobility (GJH), assessed with the Beighton Score
4) Easily bruised skin or spontaneous ecchymoses (discolorations of the skin due to bleeding underneath).
Cardiac-Valvular EDS
Major Criteria:
1) Severe progressive cardiac-valvular problems (Damage in any of the 4 heart valves)
2) Skin hyperextensibility
3) Atrophic Scarring
4) Easily bruised skin
5) Joint hypermobility (Generalized or restricted to small joints).
Vascular EDS
Major Criteria:
1) Family history of Vascular EDS with a documented causative variant in COL3A1 (the gene responsible for forming type 3 collagen, which makes up connective tissues)
2) Arterial rupture at a young age
3) Spontaneous sigmoid colon perforation (colon rupture)
4) Uterine rupture during the third trimester in the absence of any previous C-section
5) Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma (symptoms include pain and redness in one eye/humming sound within the skull)
Hypermobile EDS
The Diagnosis for Hypermobile EDS is complex, as the responsible mutated gene has yet to be identified. Thus, the diagnosis is solely based on a detailed set of criteria to exclude the possible diagnosis of other HDCTs.
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Click this link for the full hEDS Diagnostic Checklist
Arthrochalasia EDS
Major Criteria:​
1) Congenital bilateral hip dislocation (due to abnormal formation of hip joint during fetal development)
2) Severe Generalised Joint Hypermobility,
3) Frequent dislocations/subluxations
4) Skin Hyperextensibility.
Dermatosparaxis EDS
Major Criteria:​
1) Extreme skin fragility with congenital or postnatal skin tears
2) Characteristic craniofacial features, which are evident at birth or early infancy, or evolve later in childhood
3) Redundant, almost lax skin, with excessive skin, folds at the wrists and ankles
4) Increased palmar wrinkling
5) Extreme vulnerability to bruising with a risk of subcutaneous hematomas and hemorrhage
6) Umbilical hernia
7) Postnatal growth retardation
8) Short limbs, hand, and feet
9) Perinatal complications due to connective tissue fragility
Kyphoscoliotic EDS
Major Criteria:​
1) Congenital muscle hypotonia
2) Congenital or early onset kyphoscoliosis (sideways and forward curving of the spine)
3) Generalized Joint Hypermobility
4) Dislocations/subluxations (shoulders, hips, and knees in particular)
Brittle Cornea Syndrome
Major Criteria:​
1) Thin cornea (central corneal thickness often <400 µm)
2) Early onset progressive keratoconus (bulging cornea, leading to distorted vision)
3) Early onset progressive keratoglobus (globular cornea, leading to distorted vision)
4) Blue sclerae (white part of the eye)
Spondylodysplastic EDS
Spondylodysplastic EDS
Major Criteria:​
1) Short stature (progressive in childhood)
2) Muscle hypotonia (unresponsive or "floppy" muscles)
3) Bowing of limbs
Musculocontractural EDS
Major Criteria:​
1) Congenital multiple contractures (permanent shortening and stiffening of muscles)
2) Characteristic craniofacial features, which are evident at birth or in early infancy
3) Skin Hyperextensibility
4) Easily bruised skin
5) Skin fragility
6) Atrophic Scarring
7) Increased wrinkling on the palm