Ehlers-Danlos syndrome

What it is

The Ehlers-Danlos syndromes (EDS) are a group whose mode of inheritance is autosomal dominant, rarely AR. The most severe type is the vascular one (vEDS; EDS type IV).

How it presents

The joints and the skin carry it:

• Generalized joint hypermobility, with the Beighton score.
• Hyperextensible skin, fragile skin, velvety skin, and increased bruising.
• Cigarette paper scar, and a fish mouth appearance of skin tears.
• Piezogenic papules and Gorlin's sign.
• Kyphoscoliosis, swan-neck malformation, and hypotonia.

The Beighton score is how joint hypermobility is assessed: a numerical mobility score of 0 to 9, one point allocated for the ability to perform each of the following tests.

• Pull little finger back beyond 90° (one point for each side).
• Pull thumb back to touch forearm (one point for each side).
• Bend elbow backwards beyond 10° (one point for each side).
• Bend knee backwards beyond 10° (one point for each side).
• Lie hands flat on floor while keeping knees straight and bending forward at waist.

A positive Beighton score for adults is 5 out of the 9 possible points; for children, a positive score is at least 6 out of 9 points.

In a child who walks out-toed, EDS sits in the DDx alongside hypermobility and Marfan syndromes.