Review Article
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 |
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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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