Table 1
Types of EDS
Subtype |
Inheritance pattern |
Genetic basis |
Protein involved |
Classical EDS ( cEDS ) |
Autosomal dominant |
COL5A1 , COL5A2 |
Type V collagen |
Classical EDS rare ( cEDS ) |
Autosomal dominant |
COL1A1 c . 934C } T , |
Type I collagen |
|
|
p .( Arg312Cys ) |
|
Classical-like EDS ( clEDS ) |
Autosomal recessive |
TNXB |
Tenascin XB |
Cardiac-vulvular EDS ( cvEDS ) |
Autosomal recessive |
COL1A2 ( biallelic |
Type I collagen |
|
|
mutations that lead to COL1A2 NMD and absence of pro2 ( I ) collagen chains |
|
Vascular EDS ( vEDS ) |
Autosomal dominant |
COL3A1 |
Type III collagen |
Vascular EDS rare ( vEDS ) |
Autosomal dominant |
COL1A1 |
Type I collagen |
|
|
c . 934C } T , p ( Arg312Cys ) c . 1720C } T , p . ( Arg574Cys ) p .( Arg1093Cys ) |
|
Hypermobile EDS ( hEDS ) |
Autosomal dominant |
Unknown |
Unknown |
Arthrochalasia EDS ( aEDS ) |
Autosomal dominant |
COL1A1 , COL1A2 |
Type I collagen |
Dermatosparaxis EDS ( dEDS ) |
Autosomal recessive |
ADAMTS2 |
ADAMTS-2 |
Kyphoscoliotic EDS ( kEDS ) |
Autosomal recessive |
PLOD1 |
LH1 |
|
|
FKBP14 |
FKBP22 |
Brittle cornea syndrome ( BCS ) |
Autosomal recessive |
ZNF649 |
ZNF649 |
|
|
PRDM5 |
PRDM5 |
Spondylodysplastic EDS ( spEDS ) |
Autosomal recessive |
CHST14 |
D4ST1 |
|
|
DSE |
DSE |
Myopathic EDS ( mEDS ) |
Autosomal recessive OR |
COL12A1 |
Type XII collagen |
Periodontal EDS ( pEDS ) |
Autosomal dominant |
C1R |
C1r |
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began in the late 1960s . The most widely spread and used criteria – the Ville Franche criteria – were published in 1998 , where a simplified classification was proposed creating six major subtypes , for which major and minor clinical criteria were defined , and substituted the previously used Roman numeral types .
In response to the varied needs listed above , new diagnostic criteria and management and care guidelines were published in March 2017 in the American Journal of Medical Genetics . The new criteria classified the EDS into thirteen subtypes . Each EDS subtype has a set of clinical criteria that help define diagnosis ; physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype most relevant . For the first time , hypermobility spectrum disorders ( HSD ) were described .
As well as the more known clinical manifestations of EDS affecting the joints and skin , there can also be chronic , early onset , debilitating musculoskeletal pain , chronic fatigue and other comorbidities in other systems in the body such as gastrointestinal , autonomic and immune system . There is also clinical evidence of a prevalence of neurological and psychological issues in this patient group , but more research is needed in all these areas .
There is substantial symptom overlap between the EDS subtypes and other connective tissue disorders , including HSD . When the gene mutation is known , a definitive diagnosis for all the EDS subtypes also calls for confirmation by genetic testing . The gene is known in all the different EDS forms , apart from hypermobile EDS ( hEDS ). There is no genetic marker for any of the hypermobility spectrum disorders .
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What are HSD ? The issue of those with symptomatic hypermoblility who do not full the criteria of hypermobile EDS needed to be addressed . These people still require validation , treatment and management and we could not move forward with EDS , without considering this part of the population . As a response to this , the HSD were developed .
HSD are a group of clinically relevant conditions related to joint hypermobility ( Table 2 ). HSD are intended to be diagnosed after other possible answers are excluded . HSD , just like hEDS , can have significant effects on health . Whatever the problems that arise , whatever the diagnosis , it is important that these effects are managed appropriately and that each person is
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