Dermatosparaxis Ehlers-Danlos Syndrome (dEDS)

People with dEDS typically have loose, sagging skin with excess skin folds, especially around the neck, wrists, and ankles. 

Skin hyperextensibility means the skin can be stretched beyond the normal range. 

People with dEDS have very fragile skin that is prone to tearing. Most people with dEDS have skin tears either at birth or within the first few years of life. Dermatosparaxis means “tearing of the skin.” 

People with dEDS typically bruise easily and severely, often leading to the collection of blood beneath the skin, known as a large subcutaneous hematoma. 

People with dEDS may have a soft and doughy skin texture. 

People with dEDS may have thin, translucent skin, which can make their veins appear more visible. This may be harder to see on brown or black skin. 

Atrophic scars are sunken or depressed scars that form when wounds heal below the normal surface layer of the skin. This happens when the body does not produce enough collagen during healing. 

Hypertrichosis is excessive hair growth. Some people with dEDS have generalized hypertrichosis, which is excess hair growth throughout the body. 

Joint hypermobility means a joint has a greater range of motion than usual. Joint hypermobility is usually mild at birth in dEDS but becomes more apparent later in life. 

Postnatal growth restriction means that a newborn does not grow as expected. Specifically, it means a baby’s weight is below the 10th percentile for their age. Height, weight, and head circumference are usually normal at birth in dEDS. However, postnatal growth restriction typically results in short limbs, hands, and feet. 

Motor skills are actions that use specific muscle movements to perform a particular task. Gross motor skills involve large muscle groups, such as rolling, crawling, and walking. Delayed gross motor development means that a child has trouble with gross motor skills that other children their age can do.  

Mild gross motor development delay is reported in about half of people with dEDS. 

A bone fracture is a partial or complete break of a bone. Fractures have been reported in dEDS, including skull fractures at birth. 

Some people with dEDS have extra wrinkles on the palms of their hands. 

Most people with dEDS have short, plump hands and feet and short, stubby fingers and toes. 

People with dEDS often have similar craniofacial features, which include features of the face and the rest of the head. 

Craniofacial features of dEDS include: 

• Blue tint to the whites of the eyes (blue sclerae)  
• A fold of skin on the upper eyelid that covers the inner corner of the eye (epicanthal folds) 
• Small lower jaw (micrognathia) 
• Large soft spot on a baby’s head (large fontanelle) 
• Eyelid swelling (eyelid edema/blepharochalasis) 
• Down-slanting eyes (down-slanting palpebral fissures) 
• Extra skin around the eyes (excessive periorbital skin) 
• Low-set ears 
• Increased space between the inner corners of the eyelids (telecanthus) 
• Saggy cheeks 
• Large, prominent eyes 

The sclera (plural: sclerae) is a protective layer of connective tissue that surrounds most of the eye. It is usually white but is more transparent when collagen fibers are thin. This allows the underlying tissue to show through, giving the eyes a bluish color. 

An epicanthal fold is a fold of skin on the upper eyelid that covers the inner corner of the eye. 

Myopia, also called nearsightedness or shortsightedness, is a condition that makes it difficult to see objects that are far away. Due to differences in eye shape, people with myopia can see objects near them more clearly but have trouble seeing objects further away. Severe myopia is often present from a young age in people with dEDS. 

Astigmatism is a condition that makes it difficult to see objects at any distance. Due to differences in eye shape, people with astigmatism have blurred or distorted vision. 

Gingival hyperplasia is an increase in the size of the gums.  

Micrognathia means the lower jaw is smaller than usual. 

Hypodontia, or congenitally missing teeth, means one or more teeth are partially or completely missing. Hypodontia occurs when the teeth never grow in. It is not the result of teeth falling out. 

Microdontia means that a tooth or set of teeth is smaller than usual. 

Dental lamina cysts, also called gingival cysts of newborns, are small, painless bumps on the gums of newborns. 

Bleeding problems have been reported in people with dEDS. Reported problems range from severe nose and gum bleeds to internal bleeding and cerebral hemorrhages at birth. 

The diaphragm is a muscle that sits below the lungs and helps us breathe. A ruptured diaphragm means there is a tear in the diaphragm, which can cause chest pain, trouble breathing, and coughing. A ruptured diaphragm has been reported in dEDS but is not a common feature. 

A hernia occurs when an internal organ pushes through a weak spot in the tissues that support it, creating an outward bulge. People with dEDS are usually born with umbilical hernias, which are hernias near the belly button. 

Prolapse occurs when one or more pelvic organs fall from their normal position. Rectal prolapse happens when the muscles and tissues cannot properly support the rectum. Rectal prolapse has been reported in dEDS but is not a common feature. 

A bladder diverticulum (plural: diverticula) occurs when the bladder lining pushes through a weak spot in the bladder wall. This creates a pouch that sticks out from the bladder. Bladder diverticula do not always cause symptoms, but large bladder diverticula may cause bladder stones, urinary tract infections, and other urinary problems. Bladder diverticula have been reported in dEDS but are not considered a common feature. 

A bladder rupture occurs when there is a tear in the bladder wall. This can allow urine to leak into surrounding tissues. 

Premature birth means a baby is born before 37 weeks of pregnancy. Premature birth is more common when the baby has dEDS. 

Premature rupture of membranes (PROM) means that the amniotic sac breaks open prematurely before labor begins. This causes amniotic fluid to leak (also known as water breaking) and can increase the risk of premature birth and infection. 

Complications before and after birth have been reported in several babies with dEDS. Reported complications include skull fractures and cerebral hemorrhage (bleeding in the brain) at birth.