International Scholarly Research Notices / 2012 / Article / Tab 1

Review Article

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

Table 1

Classification of EDSs.


Major forms
 ClassicADCOL5A1, COL5A2
 Hypermobility/JHSAD?Mostly unknown
 ArthrochalasiaADCOL1A1, COL1A2
Rare/emerging forms
 Tenascin X deficientAR, AD?TNXB
 Classic with vascular  ruptureADCOL1A1
 EDS/OI overlapADCOL1A1, COL1A2
 With periventricular  heterotopiaXLDFMNA
 Kyphoscoliotic with  deafnessARFKBP14
 Fibronectin deficientARUnknown

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

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