There is no genetic test available for Hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder.
You can find information about how to assess for hypermobile EDS and about the spectrum of joint hypermobility spectrum disorders and the diagnosing criteria.
We recognise that, in some patients, joint hypermobility can be part of a serious genetic condition.
Additional features that should prompt a referral to clinical genetics
- Skin features:
- Unusually hyperextensible skin (skin is hyperextensible if it can be stretched over a standardized cut-off in three of the following areas: 1.5 cm for the distal part of the forearms and the dorsum of the hands; 3 cm for neck, elbow, and knees (The 2017 International Classification of the Ehlers–Danlos Syndromes, Malfait et al, 2017).
- Widened and atrophic scarring (‘cigarette paper’).
- Skin fragility (skin that tears easily)
- Unusually hyperextensible skin (skin is hyperextensible if it can be stretched over a standardized cut-off in three of the following areas: 1.5 cm for the distal part of the forearms and the dorsum of the hands; 3 cm for neck, elbow, and knees (The 2017 International Classification of the Ehlers–Danlos Syndromes, Malfait et al, 2017).
- Skeletal features including scoliosis, kyphoscoliosis, pectus or a Marfanoid body habitus.
- Lens dislocation.
- Cardiovascular features including:
- Aortic dilatation
- Arterial aneurysms or dissections and valvular abnormalities (including sudden early vascular death in family members).
- Personal or family history of any of the following:
- Vascular events (aneurysms, subarachnoid haemorrhage, recurrent severe post-operative haemorrhage, arterial dissection)
- Recurrent spontaneous pneumothorax
- Bowel perforation
- Uterine rupture
