Ehlers-Danlos syndromes – 2017 international classification

Clinical subtype	Old nomenclature	Genetics/inheritance	Predominant features
Classical EDS (cEDS)	Classical EDS, types I and II	COL5A1, COL5A2, rarely COL1A1 Autosomal dominant	Hyperextensible skin Atrophic scars, fragile skin, increased bruisability, doughy/velvety skin Generalized joint hypermobility
Classical-like EDS (clEDS)	TNXB-deficient EDS	TNXB Autosomal recessive	TNXB – Hyperextensible skin, velvety skin texture, no atrophic scarring; generalized joint hypermobility, easy bruisability, myopathic features
Classical-like EDS (clEDS)	TNXB-deficient EDS	AEBP1 Autosomal recessive	AEBP1 – Hyperextensible skin, velvety skin texture, atrophic scarring; generalized joint hypermobility, easy bruisability, gastrointestinal rupture (rare)^[1]
Cardiac-valvular EDS (cvEDS)		COL1A1 Autosomal recessive	Progressive cardiac valve involvement Hyperextensible thin skin, atrophic scars, increased bruisability Joint hypermobility
Vascular EDS (vEDS)	Vascular EDS, type IV	COL3A1 Autosomal dominant	Arterial rupture Internal organ rupture (colon, uterus) Severe bruising Thin translucent skin Small joint hypermobility
Hypermobile EDS (hEDS)	Hypermobile EDS, type III	Unknown Autosomal dominant	Generalized joint hypermobility Mild hyperextensible skin, soft velvety skin, recurrent hernias, organ prolapse, unexplained striae Chronic pain Joint dislocations/subluxations
Arthrochalasia EDS (aEDS)	Arthrochalasia, types VIIA and VIIB	COL1A1, COL1A2 Autosomal dominant	Congenital bilateral hip dislocation Severe generalized joint hypermobility Hyperextensible skin, tissue fragility Hypotonia Mild osteopenia
Dermatosparaxis EDS (dEDS)	Dermatosparaxis EDS, type VIIC	ADAMTS2 Autosomal recessive	Severe skin fragility, visceral fragility Lax redundant skin Severe bruisability Postnatal growth retardation
Kyphoscoliotic EDS (kEDS)	Kyphoscoliosis EDS, type VI	PLOD1 FKBP14 Autosomal recessive	Congenital hypotonia Early kyphoscoliosis Generalized joint hypermobility Osteopenia Blue sclerae Marfanoid habitus Hearing loss, myopathic features (FKBP14 form)
Brittle cornea syndrome (BCS)	Brittle cornea syndrome	ZNF469 PRDM5 Autosomal recessive	Thin cornea Keratoconus Blue sclerae Risk for globe rupture, retinal detachment High myopia
Spondylodysplastic EDS (spEDS)	EDS progeroid type Spondylocheirodysplastic EDS	B4GALT7 B3GALT6 SLC39A13 Autosomal recessive	Short stature Hypotonia Limb bowing, characteristic skeletal findings Osteopenia Hyperextensible, thin doughy skin
Musculocontractural EDS (mcEDS)	Adducted thumb Clubfoot Syndrome B3GalT6-deficient EDS EDS Kosho type	CHST14 DSE Autosomal recessive	Congenital contractures (clubfoot) Hyperextensible skin, easy bruisability, fragile skin, atrophic scars Recurrent dislocations
Myopathic EDS (mEDS)		COL12A1 Autosomal dominant or recessive	Congenital hypotonia Proximal joint contractures Distal joint hypermobility Doughy skin Atrophic scars
Periodontal EDS (pEDS)	EDS periodontitis, type VIII	C1R C1S Autosomal dominant	Early-onset severe periodontitis Unattached gingiva Pretibial plaques Joint hypermobility Hyperextensible skin Marfanoid features

EDS: Ehlers-Danlos syndromes.

* Refer to UpToDate topic review on clinical manifestations and diagnosis of Ehlers-Danlos syndromes and Malfait F, Francomano C, Byers P, et al for complete details about the diagnostic criteria.

Reference:

Blackburn PR, Xu Z, Tumelty KE, et al. Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome. Am J Hum Genet 2018; 102:696.

Modified from: Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175(1):8-26. https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31552. Copyright © 2017. Reproduced with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: [email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (http://onlinelibrary.wiley.com).

Graphic 118193 Version 3.0

خرید پکیج

Ehlers-Danlos syndromes – 2017 international classification