Table 1.

Overview of Ehlers-Danlos syndromes (adapted from De Paepe and Malfait [2].)

EDS subtypes (former type)	Inheritance	Major symptoms	Genes
Classic (I/II)	AD	Skin hyperextensibility Widened atrophic scars	COL5A1/COL5A2   COL1A1
	AR	Joint hypermobility, muscle weakness, and distal contractures	TNX-B
Hypermobility (III)	AD	Generalized hypermobility and subtle skin findings	?
Vascular (IV)	AD	Arterial and hollow organ rupture at a young age	COL3A1
Vascular-like	AD	Features of both classic and vascular types	COL1A1
Cardiac-valvular	AR	In childhood: mild skin, joint hypermobility, hypotonia, and osteopenia. In adulthood: severe valve disease	COL1A2
EDS with periventricular heterotopia	XLR	Nodular brain heterotopia and classic EDS symptoms	FLNA   ARFGEF2
Kyphoscoliotic (VIa)	AR	Early progressive kyphoscoliosis	PLOD1
Musculocontractural (VIb)	AR	Craniofacial abnormalities, joint contracture, hypotonia, and GI/GU problems	CHST14
Arthrochalasis (VIIa/VIIb)	AD	Congenital bilateral hip dislocation	COL1A1/COL1A2
Dermatosparaxis (VIIc)	AR	Sagging skin, delayed fontanels closure, eye lid edema, and short stature and fingers.	ADAMTS2
Periodontal (VIII)	AD	Severe early-onset periodontitis	12p13
Occipital horn syndrome (IX)	XLR	Loose skin, delayed intelligence, hernias, twisted blood vessels, dysautonomia, and hair abnormalities.	ATP7A
Spondylocheirodysplastic	AR	Short stature and mild skeletal dysplasia	SLC39A13
EDS-Stickler	AR	Pierre-Robin sequence and eye abnormalities.	PLOD3
EDS-OI	AD	Bone fragility and classic EDS symptoms	COL1A1/COL1A2
Brittle cornea syndrome	AR	Ocular fragility and keratoconus	ZNF469   PRDM5
Progeroid EDS	AR	Wrinkled face, curly fine hair, and periodontitis	B4GALT7

AR: autosomal recessive; AD: autosomal dominant; XLR: X-linked recessive; OI: osteogenesis imperfecta; GI: gastrointestinal; GU: genitourinary; and ?: unknown.