Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

Table 1

Classification of EDSs.

Subtype	Inheritance	Gene(s)
Major forms
Classic	AD	COL5A1, COL5A2
Hypermobility/JHS	AD?	Mostly unknown
Vascular	AD	COL3A1
Kyphoscoliotic	AR	PLOD1
Arthrochalasia	AD	COL1A1, COL1A2
Dermatosparaxis	AR	ADAMTS2
Rare/emerging forms
Tenascin X deficient	AR, AD?	TNXB
Classic with vascular  rupture	AD	COL1A1
Cardiac-valvular	AR	COL1A2
EDS/OI overlap	AD	COL1A1, COL1A2
With periventricular  heterotopia	XLD	FMNA
Musculocontractural	AR	CHST14
Spondylocheirodysplastic	AR	SLC39A13
Progeroid	AR	B4GALT7
Kyphoscoliotic with  deafness	AR	FKBP14
Parodontitis	AD	Unknown
Fibronectin deficient	AR	Unknown

AD: autosomal dominant, AR: autosomal recessive, EDS/OI: Ehlers-Danlos syndrome/osteogenesis imperfect, JHS: joint hypermobility syndrome, XLD: X-linked dominant.