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Major manifestations and distinguishing features of subtypes of Ehlers-Danlos syndromes (EDS)

Major manifestations and distinguishing features of subtypes of Ehlers-Danlos syndromes (EDS)

Clinical subtype	Musculoskeletal manifestations	Skin manifestations	Other manifestations	Distinguishing features^*
Classical EDS (cEDS)	Generalized joint hypermobility Recurrent joint subluxations/dislocations	Hyperextensible skin Velvety or doughy skin texture Skin fragility Extensive atrophic scarring Increased bruisability		Skin fragility with extensive atrophic scarring Velvety or doughy skin texture
Classical-like 1 EDS (clEDS1)	Generalized joint hypermobility Foot deformities Leg swelling	Hyperextensible skin Velvety skin texture No atrophic scarring Increased bruisability		No atrophic scarring Foot deformities Leg swelling
Classical-like 2 EDS (clEDS2)^*	Generalized joint hypermobility	Hyperextensible skin Velvety skin texture Increased bruisability	Gastrointestinal rupture (rare)	Gastrointestinal rupture (rare)
Classical-like 3 EDS (clEDS3)^*	Generalized joint hypermobility	Hyperextensible skin Soft or doughy skin texture Increased bruisability	Tendon rupture Cerebral aneurysms	Tendon rupture Cerebral aneurysms
Cardiac-valvular EDS (cvEDS)	May have generalized joint hypermobility or hypermobility predominately in small distal joints	Hyperextensible, thin skin Atrophic scarring Increased bruisability	Severe heart valve insufficiency	Severe heart valve insufficiency
Vascular EDS (vEDS)	Hypermobility predominately in small distal joints Tendon and muscle rupture	Thin, translucent skin Severe bruisability	Arterial fragility with aneurysm/dissection/rupture Organ fragility and rupture (eg, colon, uterus) Spontaneous pneumothorax	Arterial fragility with aneurysm/dissection/rupture Organ fragility and rupture (eg, colon, uterus) Extensive bruising Pneumothorax
Hypermobile EDS (hEDS)	Generalized joint hypermobility Recurrent joint subluxations/dislocations Chronic pain	Mildly hyperextensible skin Soft, velvety skin texture Unexplained striae	Organ prolapse	Generalized joint hypermobility Join instability (ie, subluxations, dislocations) Chronic pain Organ prolapse
Arthrochalasia EDS (aEDS)	Severe generalized joint hypermobility Congenital bilateral hip dislocation Muscle hypotonia Kyphoscoliosis Mild osteopenia	Hyperextensible skin Skin fragility Atrophic scarring		Severe joint hypermobility Congenital bilateral hip dislocation Hypotonia Mild osteopenia
Dermatosparaxis EDS (dEDS)	Postnatal growth retardation, short limbs	Lax, redundant skin Severe skin fragility Severe bruisability	Craniofacial features	Extreme skin fragility Loose, excessive skin Severe bruising Craniofacial features Postnatal growth retardation, short limbs
Kyphoscoliotic EDS (kEDS)	Generalized joint hypermobility Recurrent joint subluxations/dislocations Congenital muscle hypotonia Congenital/early-onset kyphoscoliosis Marfanoid habitus Osteopenia FKBP14 form: myopathic features		Blue sclerae Vascular fragility FKBP14 form: hearing loss	Congenital/early-onset kyphoscoliosis Marfanoid habitus Congenital hypotonia Blue sclerae Osteopenia FKBP14 form: hearing loss, myopathic features
Brittle cornea syndrome (BCS)			Severe ocular problems (thin cornea, keratoconus, blue sclerae, high myopia, risk of global rupture and retinal detachment) Hearing loss	Severe ocular problems (thin cornea, keratoconus, blue sclerae, high myopia, risk of global rupture and retinal detachment) Hearing loss
Spondylodysplastic EDS (spEDS)	Limb bowing Short stature Muscle hypotonia Osteopenia	Hyperextensible, thin skin Doughy skin texture	Craniofacial features	Short stature Hypotonia Limb bowing Osteopenia Craniofacial features
Musculocontractural EDS (mcEDS)	Generalized joint hypermobility Recurrent joint subluxations/dislocations Multiple congenital contractures (eg, clubfoot)	Hyperextensible skin Skin fragility Atrophic scarring Increased bruisability	Craniofacial features	Multiple congenital contractures (eg, clubfoot) Craniofacial features
Myopathic EDS (mEDS)	Hypermobility predominately in small distal joints Proximal joint contractures Congenital hypotonia	Doughy skin texture Atrophic scarring		Congenital hypotonia Proximal joint contractures
Periodontal EDS (pEDS)	Hypermobility predominately in small distal joints Marfanoid features	Hyperextensible skin Pretibial plaques	Severe, early-onset periodontitis with tooth loss Vascular complications (eg, aneurysm development)	Severe, early-onset periodontitis with tooth loss Pretibial plaques Vascular complications (eg, aneurysm development)

* Features in this column are the most helpful in distinguishing this subtype of EDS from others, although certain features may be seen in other subtypes.

Graphic 145512 Version 2.0

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