What Are the 12 Systemic Signs of hEDS? | Inciteful Med

To diagnose Hypermobile Ehlers-Danlos Syndrome (hEDS), doctors use a specific checklist introduced in 2017 ^[1][2]. While the Beighton score measures how flexible your joints are, the doctor also needs to see if your connective tissue issues affect other parts of your body. Because connective tissue is the “glue” holding your entire body together, a defect can cause seemingly unrelated issues in your skin, heart, and mouth.

This is evaluated in “Criterion 2, Feature A,” which lists 12 systemic (body-wide) physical signs. If you have at least 5 of these 12 signs, you meet this part of the diagnostic criteria ^[1][2].

Note: If you have fewer than 5 of these signs, don’t panic. You can still meet Criterion 2 if you fulfill its other two sections: Feature B (family history) and Feature C (musculoskeletal complications) ^[2]. Also, please do not aggressively pull your skin or force your hands into painful positions while trying to self-assess at home.

1. Unusually Soft or Velvety Skin

Doctors will feel the texture of your skin to see if it is exceptionally soft or smooth to the touch, often described as “velvety” or like a baby’s skin ^[1].

2. Mild Skin Stretchiness

Connective tissue gives skin its firmness. The doctor will gently pinch and pull the skin on the inside of your forearm (the side without hair) to check for hyperextensibility (skin that stretches more than normal) ^[3]. In hEDS, the skin typically stretches more than 1.5 centimeters (about 0.6 inches) before meeting resistance ^[3][4].

3. Unexplained Stretch Marks

Stretch marks are common, but in hEDS they often appear without a clear reason, a condition called striae distensae ^[3]. The doctor will look for stretch marks that occurred without rapid weight gain, significant weight loss, or pregnancy, especially if they started during childhood or early puberty ^[2].

4. Bumps on the Heels

Piezogenic papules are small, soft, skin-colored bumps that appear on the sides or back of your heels when you stand up ^[3]. They happen because fat from under your foot pushes through small gaps in the connective tissue when under pressure. The doctor will ask you to stand barefoot to check for them on both heels ^[1][2].

5. Multiple or Recurrent Abdominal Hernias

A hernia happens when an internal organ or tissue pushes through a weak spot in the muscle or tissue wall. The doctor will review your medical history to see if you have had multiple hernias (like umbilical/belly button or inguinal/groin hernias), or if a hernia returned after being surgically repaired ^[1][2].

6. Atypical Scars

When your skin heals after a cut or surgery, the scar may look unusually thin, widened, or sunken, which doctors call atrophic scarring ^[1]. The doctor will look for at least two of these atypical scars on your body, often found on areas prone to scraping like the knees, elbows, or forehead ^[2]. (Note: In hEDS, these do not typically look like “cigarette paper,” which is a sign of a different condition called Classical EDS).

7. Organ Prolapse

Prolapse occurs when organs (like the pelvic floor, rectum, or uterus) slip out of their normal position due to weak support tissues. To count for this criterion, a prolapse must happen in a person who hasn’t had children (nulliparous), a man, or a child, without other known causes like severe obesity ^[1][2].

8. Dental Crowding and a High Palate

If the roof of your mouth (the palate) is unusually high and narrow, your teeth may not have enough room to grow straight, leading to crowding ^[5][6]. The doctor or dentist will look inside your mouth to check the shape of your palate and the alignment of your teeth ^[3].

9. Long, Slender Fingers

Arachnodactyly refers to fingers that are unusually long and slender compared to the palm. The doctor will perform two simple hand tests to check for this. To count toward the diagnosis, these signs must be positive on both hands ^[1]:

• The Thumb Sign (Steinberg sign): You tuck your thumb across your palm and make a fist. If the tip of your thumb sticks out past the edge of your hand, it’s positive ^[1][2].
• The Wrist Sign (Walker-Murdoch sign): You wrap your thumb and pinky finger around your opposite wrist. If they overlap, it’s positive ^[1][2].

10. Arm Span Greater Than Height

Because long bones can grow excessively in some connective tissue disorders, the doctor will measure your height and your “wingspan” (from fingertip to fingertip with your arms stretched wide). If your arm span divided by your height is 1.05 or higher, you meet this criteria ^[3][2].

11. Floppy Heart Valve

Mitral valve prolapse happens when the mitral valve (a flap in your heart that keeps blood flowing in the right direction) is floppy and bulges backward. This cannot be checked just by listening; it requires an ultrasound of the heart (echocardiogram) to confirm ^[7][8].

12. Widened Aorta

The aorta is the main artery carrying blood away from your heart. Connective tissue weakness can cause the base (root) of the aorta to stretch and widen, known as aortic root dilation ^[7]. Like the mitral valve, this must be measured using an echocardiogram, and the doctor will check if the measurement is larger than normal for your age and body size (a “Z-score” greater than +2) ^[9][1].

A Note on Echocardiograms for Items 11 and 12:
You do not need to schedule a heart ultrasound on your own before your appointment. Doctors typically evaluate the first 10 physical signs in the office. They will usually order the echocardiogram later to see if you meet the 5/12 threshold, or as a routine check to ensure your heart is healthy ^[7].