Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

  title={Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests},
  author={Glenda J. Sobey},
  journal={Archives of Disease in Childhood},
  pages={57 - 61}
  • G. Sobey
  • Published 3 July 2014
  • Medicine
  • Archives of Disease in Childhood
The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate… 

Ehlers-Danlos syndrome - a commonly misunderstood group of conditions.

All clinicians need to be aware of EDS and its variable presentations that, in some types, can be life threatening. Recognition of EDS can allow accurate diagnosis by genetic testing, genetic

Ehlers–Danlos syndrome, classical type

The aim of this literature review is to summarize the current knowledge and highlight areas for future research in classical EDS.

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

It is hypothesized that TEM can provide evidence for or against pathogenicity of VUS, and the frequency of variants of uncertain significance (VUS) identified using DNA analysis is increasing.

Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1

A novel frameshift mutation in the type V collagen gene COL5A1 contributes to the phenotype of classical EDS and its phenotype correlation can provide useful information for practitioners about early recognition in Ehlers–Danlos syndrome.

A review of Ehlers-Danlos syndrome.

Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders.

Difficulties in diagnosis and selection of optimal diagnostic methods for hypermobile Ehlers Danlos Syndrome – literature review

In order to diagnose EDS-HT, one should be guided not only by the established standard, which is the Beighton score, but also by additional tests that would confirm the diagnostic decision and reduce the risk of error.

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

Targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS, and classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2.

Joint Hypermobility as a Potential Indicator of Marfan Syndrome and Ehlers-Danlos Syndrome

The case of a nine-year-old male who presented with joint hypermobility of the shoulders, knees, and thumbs, and a family history of jointhypermobility in his 15- year-old brother is presented, highlighting the importance of supplementing the Ghent Nosology criteria with genetic testing in diagnosing MFS.

Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre

The Villefranche criteria provide accurate detection of symptomatic probands in specialized practice but have limited specificity, and the revised diagnostic criteria for vascular Ehlers-Danlos syndrome have increased specificity, but its overall performance is poorer.

A four-generation pedigree of vascular-type Ehlers–Danlos syndrome with spontaneous aortic dissections and multiple aneurysms: A case report and literature review

Although EDS is rarely seen, it is necessary to be aware of this disease to make the right diagnosis and chose the appropriate treatment strategy, Doctors' unfamiliarity with this disease may compromise care.



The Ehlers–Danlos syndrome, a disorder with many faces

The study of Ehlers–Danlos syndromes has brought new insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix molecules, such as proteoglycans and tenascin‐X, or genetic defect in molecules involved in intracellular trafficking, secretion and assembly of ECM proteins.

Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997

This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.

Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

A second patient with EDS VIIC presenting with congenital skull fractures and skin lacerations at birth is reported, complications which may occur more frequently than previously thought in this condition.

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

It is shown that deficiency of the extracellular-matrix protein tenascin-X (TNX), encoded by the TNXB gene, causes a new type of recessively inherited EDS, which is similar to benign joint hypermobility syndrome (BJHS).

Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism

A glycine substitution, p.G883V, within the triple helix of the α1(III) chain, was found in the index patient and in the mother, and it is confirmed that in some families mosaicism can be identified as the source of the mutation.

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

The findings highlight that the three major criteria for c EDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients and confirm that COL5A1 andCOL5A2 are the major, if not the only, genes involved in cEDs.

The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)

The natural history of three patients with EDS dermatosparaxis type are document, two of whom have been reported before the age of 2 years, and one new patient, making this a clinically recognizable condition.

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)

It is concluded that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and evidence is presented that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider E DS VIA earlier than heretofore.

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

This finding indicates that factors other than the collagens or collagen-processing enzymes can cause the Ehlers-Danlos syndrome and suggests a central role for tenascin-X in maintaining the integrity of collagenous matrix.