ÃÛÌÒAPP
There is no genetic test available for Hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder.
You can findand about the spectrum of joint hypermobility spectrum disorders and the .
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