The 13 types of EDS include classical EDS, classical-like EDS, cardiac-valvular EDS, vascular EDS, hypermobile EDS, arthrochalasia EDS, dermatosparaxis EDS, kyphoscoliotic EDS, brittle cornea syndrome, spondylodysplastic EDS, musculocontractural EDS, myopathic EDS, and periodontal EDS. The most common variant is hypermobile EDS (hEDS), followed by classical EDS (cEDS) and vascular EDS (vEDS).[1][2] The inheritance pattern of EDS varies by subtype, and can either be autosomal dominant or autosomal recessive. In an autosomal dominant inheritance pattern, only one copy of the mutated gene from one parent is needed for the trait to be expressed. This means that if one parent has the mutated gene (and therefore expresses the trait), there is a 50% chance that the child will inherit the gene and exhibit the trait. In the autosomal recessive pattern, two copies of the gene are necessary for the trait to be expressed; therefore, a child's chance of expressing the trait varies from 0%-100% depending on how many copies of the faulty gene each parent has.
EDS Subtype | Inheritance Pattern |
---|---|
Classical EDS | AD |
Classical-like EDS | AR |
Cardiac-valvular | AR |
Vascular EDS | AD |
Hypermobile EDS | AD |
Arthrochalasia EDS | AD |
Dermatosparaxis EDS | AR |
Kyphoscoliotic EDS | AR |
Brittle Cornea syndrome | AR |
Spondylodysplastic EDS | AR |
Musculocontractural EDS | AR |
Myopathic EDS | AD or AR |
Periodontal EDS | AD |
AD, autosomal dominant; AR, autosomal recessive
Adapted from Malfait, F et al., Mar 2017, Am J Med Genet C Semin Med Genet
References
- ^Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle BThe 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet.(2017-03)
- ^Miklovic T, Sieg VCEhlers-Danlos SyndromeStatPearls.(2023-01)