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

@article{Sobey2014EhlersDanlosSH,
  title={Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests},
  author={Glenda J. Sobey},
  journal={Archives of Disease in Childhood},
  year={2014},
  volume={100},
  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

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TLDR
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

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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

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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

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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.
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References

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The Ehlers–Danlos syndrome, a disorder with many faces

TLDR
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

TLDR
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

TLDR
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.

TLDR
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

TLDR
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

TLDR
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)

TLDR
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)

TLDR
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.

TLDR
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.