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EHLERS DANLOS SYNDROME
TYPES
13 in all (2020), GJH = generalised joint
…
EHLERS DANLOS SYNDROME
TYPES
ARTHROCHAIASIA
EDS
DEMATOSPARAXIS
EDS
KYPHOSCOLIOTIC
EDS
BRITTLE CORNEA
SYNDROME
SPONDYLODYSPLASTIC
EDS
MUSCULOCONTRACTURAL
EDS
MYOPATHIC
EDS
PERIODONTAL
EDS
PEDS
major criteria
- servere & intractable peridontitis
- lack of gingiva
- peritibial plaques
- family history, 1st degree relative
- 1 more item...
MEDS
major criteria
- congenital muscle hypotonia, atrophy
- proximal joint contractures
e.g. knee, hip, elbow
- hypermobility of distal joints
-
MCEDS
major criteria
- congenital multiple contractures
e.g. adduction-flexion, talipes
- characteristic early
craniofacial features
- skin hyperextensibility, bruising, fragility
15 minor criteria
- diagnostic
molecular test
SPEDS
major criteria
- small stature
- muscle hypotonia
- bowing limbs
5 minor criteria
gene specific
BCS
major criteria
- thin cornea, +/- rupture
- early progressive keratoconus
- early progressive keratoglobus
14 minor criteria
- diagnostic
molecular test
KEDS
major criteria
- congenital muscle hypotonia
- congenital/early kyphoscoliosis
- GJH with dislocations
10 minor criteria
- diagnostic
molecular test
DEDS
9 major criteria
- includes skin fragility
& craniofacial features
-
HYPERMOBILE
EDS
VASCULAR
EDS
CARDIAC-VALVULAR
EDS
CLASSIC-LIKE
EDS
CLASSICAL
EDS
CEDS
major criteria
- skin hyperextensibility
- atrophic scarring
&
- generalised joint
hypermobility (GJH)
-
CLEDS
major criteria
- skin hyperextensibility
- velvety texture & no atrophic scarring
- GJH without dislocations
- easy bruising or
spontaneous ecchymoses
-
CVEDS
major criteria
- severe progressive
cardiac-valve problems
- skin hyperextensibility
- atrophic scars
- easy bruising
- GJH or small joints
-
VEDS
major criteria
- family history with
causative variant COL3A1
- arterial rupture age <40
- spontaneous
sigmoid colon perforation
- uterine rupture, 3rd trimester
- carotid-cavernous sinus fistula
(CCSF)
-
hEDS
- clinical diagnosis
- no tests yet available
3 Criteria
1 GJH
2 TWO or more of the following:
connective tissue disorder
+ve family history
MSK complications
3 - absence of -
skin fragility
other heritable diseases
-
AEDS
major criteria
- congenital bilateral
hip dislocation
- severe GJH
with multiple dislocations
- skin hyperextensibility
5 minor criteria
- diagnostic
molecular test
-