Brittle cornea syndrome (BCS)

Brittle cornea syndrome (BCS) is characterized by an unusually thin cornea (the transparent covering of the front of the eye), early onset keratoconus (condition that causes bulging of the cornea) and early onset keratoglobus (condition that changes the structure of the cornea).

Cardiac-valvular EDS

Cardiac-valvular EDS causes severe, progressive problems with the valves of the heart, hyperextensible, thin skin, and hypermobility of the small joints.

Classical EDS

Classical EDS is characterized by hyperextensible skin, abnormal scarring and joint hypermobility.

Classical-like EDS

Classical-like EDS is characterized by hyperextensible, velvety-smooth skin that does not exhibit abnormal scarring.

Dermatosparaxis EDS (dEDS)

Dermatosparaxis EDS (dEDS) is characterized by extreme skin fragility and unusual craniofacial (head and face) features.

Hypermobile EDS (hEDS)

Hypermobile EDS (hEDS) is characterized by joint hypermobility, connective tissue disorder, family history of hEDS and musculoskeletal complications.

Kyphoscoliotic EDS (kEDS)

Kyphoscoliotic EDS (kEDS) is characterized by extremely fragile skin that bruises easily, joint hypermobility, hypotonia at birth (“floppy baby” syndrome) and scoliosis

Musculocontractural EDS (mcEDS)

Musculocontractural EDS (mcEDS) is characterized by muscle contractures (hardening of the tissues that causes problems with movement), characteristic craniofacial features and skin that is highly sensitive and easily bruised.

Myopathic EDS (mEDS)

Myopathic EDS (mEDS) is characterized by muscle hypotonia (low muscle tone) and/or muscle atrophy (decreased muscle tone), joint contractures in the knee, hip and elbow and joint hypermobility.

Periodontal EDS (pEDS)

Periodontal EDS (pEDS) causes a variety of conditions affecting the teeth and gums, including early onset periodontitis (severe gum infection that can destroy the bones that support the teeth).

Spondylodysplastic EDS (spEDS)

Spondylodysplastic EDS (spEDS) is characterized by short stature, muscle hypotonia (low muscle tone) and bowing of the limbs.

Vascular EDS (vEDS)

Vascular EDS (vEDS) causes rupture of an artery at a young age and seen in children with a family history of vEDS.

What are the signs and symptoms of Pediatric Ehlers-Danlos Syndrome (Elastic Skin)?

Symptoms can appear at birth or shortly after and include:

• Abnormal scarring
• Abnormalities of the teeth and gums
• Autonomic nervous system issues, including high/low body temperature and heart rate, and abnormal digestion and touch sensations
• Cardiovascular issues, including mitral valve prolapse (when the valve flaps between the heart’s upper and lower chambers won’t close properly)
• Early-onset osteoarthritis (joint wear and tear)
• Elastic or stretchy skin that bruises easily
• Extra folds of skin
• Gastrointestinal issues, including gastroesophageal reflux disease (GERD)
• Internal bleeding
• Large and small joint hypermobility of elbows, fingers, jaw, knees, shoulders and toes, which can cause dislocations, pain and sprains
• Organ rupture, including the intestines or uterus
• Osteoporosis (brittle, fragile bones)
• Trouble breathing
• Very soft, velvety skin

What are the causes of Pediatric Ehlers-Danlos Syndrome (Elastic Skin)?

The exact cause of EDS is unknown. A small percentage of children with this condition have a known gene mutation.