• Soft, doughy skin that is extremely fragile
• Severe bruising and scarring
• Saggy, redundant skin, especially on the face
• Hernias
• Short stature
• Delayed closure of the fontanelles
• Short fingers
• Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia
• Rupture of the bladder or diaphragm
• Mild to severe joint hypermobility

A diagnosis of dermatosparaxis Ehlers-Danlos syndrome (dEDS) is typically based on the presence of characteristic signs and symptoms. The main clinical features for diagnosis (major and minor criteria) include:

Major criteria:

1. Extreme skin fragility with congenital or postnatal skin tears
2. Characteristic craniofacial features, which are evident at birth or early infancy, or evolve later in childhood
3. Redundant, almost lax skin, with excessive skin folds at the wrists and ankles
4. Increased palmar wrinkling
5. Severe bruisability with a risk of subcutaneous hematomas and haemorrhage
6. Umbilical hernia
7. Postnatal growth retardation
8. Short limbs, hand and feet
9. Perinatal complications due to connective tissue fragility

Minor criteria

1. Soft and doughy skin texture
2. Skin hyperextensibility
3. Atrophic scars
4. GJH
5. Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse)
6. Delayed motor development
7. Osteopenia
8. Hirsutism
9. Tooth abnormalities
10. Refractive errors (myopia, astigmatism)
11. Strabismus

Minimal criteria suggestive for dEDS:

• Major criterion (1): extreme skin fragility
• AND major criterion (2): characteristic craniofacial features

Plus

• Either: one other major criterion
• And/or: three minor criteria

Diagnosis is confirmed by genetic testing showing a change (mutation) in the ADAMTS2 gene. When testing is not available a skin biopsy can be ordered to help with the diagnosis but it is not enough to confirm it.