Subtype template – Ehlers-Danlos Syndromes New Zealand

Type of EDS (In order of estimated prevalence)	Approximate Prevalence	Associated Gene(s)	Affected Protein(s)	Inheritance Pattern	Distinguishing Features
Hypermobile EDS (hEDS)	1 in 3,100 – 5000	Unknown	Unknown	Autosomal Dominant	Generalized joint hypermobility Joint instability Chronic Pain
Classical EDS (cEDS)	1 in 20,000 – 40,000	COL5A1	Type V collagen	Autosomal Dominant	Skin fragility with extensive atrophic scarring Very stretchy skin with velvety or doughy texture
		COL5A2	Type V collagen
		COL1A1	Type I collagen
Vascular EDS (vEDS)	1 in 100,000 – 200,000	COL3A1	Type III collagen	Autosomal Dominant	Arterial fragility with aneurysm/dissection/rupture Organ fragility and rupture Extensive bruising Pneumothorax
Vascular EDS (vEDS)	1 in 100,000 – 200,000	COL1A2	Type I collagen	Autosomal Dominant
Arthrochalasia EDS (aEDS)	Less than 1 in 1,000,000	COL1A1	Type I collagen	Autosomal Dominant	Severe joint hypermobility Congenital bilateral hip dislocation
Arthrochalasia EDS (aEDS)	Less than 1 in 1,000,000	COL1A2	Type 1 collagen	Autosomal Dominant
Brittle Cornea Syndrome (BCS)	Less than 1 in 1,000,000	ZNF469	ZNF469	Autosomal Dominant	Severe joint hypermobility Congenital bilateral hip dislocation
Brittle Cornea Syndrome (BCS)	Less than 1 in 1,000,000	PRDM5	PRDM5	Autosomal Dominant
Cardiac-valvular EDS (cvEDS)	Less than 1 in 1,000,000	COL1A2	Type I collagen	Autosomal Recessive	Severe heart valve insufficiency
Classical-like EDS (clEDS)	Less than 1 in 1,000,000	TNXB	Tenascin XB	Autosomal Recessive	Stretchy, velvety skin without atrophic scarring Foot deformities Leg swelling
Dermatosparaxis EDS (dEDS)	Less than 1 in 1,000,000	ADAMTS2	ADAMTS-2	Autosomal Recessive	Extreme skin fragility Craniofacial features Loose, excessive skin Severe bruising Short limbs
Kyphoscoliotic EDS (kEDS)	Less than 1 in 1,000,000	PLOD1	LH1	Autosomal Recessive	Congenital/early-onset kyphoscoliosis Congenital hypotonia
Kyphoscoliotic EDS (kEDS)	Less than 1 in 1,000,000	FKBP14	FKBP22	Autosomal Recessive	Congenital/early-onset kyphoscoliosis Congenital hypotonia
Musculocontractural EDS (mcEDS)	Less than 1 in 1,000,000	CHST14	D4ST1	Autosomal Recessive	Congenital multiple contractures Craniofacial features
Musculocontractural EDS (mcEDS)	Less than 1 in 1,000,000	DSE	DSE	Autosomal Recessive	Congenital multiple contractures Craniofacial features
Myopathic EDS (mEDS)	Less than 1 in 1,000,000	COL12A1	Type XII collagen	Autosomal Dominant or Recessive	Congenital hypotonia Proximal joint contractures
Periodontal EDS (pEDS)	Less than 1 in 1,000,000	C1R	C1r	Autosomal Dominant	Severe, early-onset gum disease with tooth loss Pretibial plaques (discoloration of shins)
Periodontal EDS (pEDS)	Less than 1 in 1,000,000	C1S	C1s	Autosomal Dominant
Spondylodysplastic EDS (spEDS)	Less than 1 in 1,000,000	B4GALT7	β4GalT7	Autosomal Recessive	Short stature Muscle weakness Limb bowing Craniofacial features
		B3GALT6	β3GalT6
		SLC39A13	ZIP13