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Ehler-Danlos syndrome (EDS) (also called hypermobile Ehlers-Danlos syndrome) is a life-long connective tissue disorder that alters the body in a variety of ways.
Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that comprise a child’s skin, bones, blood vessels and other areas of the body. They cause the skin to become elastic, or stretchy. Ehlers-Danlos syndrome can range in severity from mildly loose joints to life-threatening complications.
There are 13 types of Ehlers-Danlos syndrome (EDS):
Arthrochalasia EDS (aEDS) is characterized by severe joint hypermobility (joints that can move way beyond the normal range of motion), congenital (present at birth) hip dislocation and hyperextensible (unusually stretchy) skin.
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 causes severe, progressive problems with the valves of the heart, hyperextensible, thin skin, and hypermobility of the small joints.
Classical EDS is characterized by hyperextensible skin, abnormal scarring and joint hypermobility.
Classical-like EDS is characterized by hyperextensible, velvety-smooth skin that does not exhibit abnormal scarring.
Dermatosparaxis EDS (dEDS) is characterized by extreme skin fragility and unusual craniofacial (head and face) features.
Hypermobile EDS (hEDS) is characterized by joint hypermobility, connective tissue disorder, family history of hEDS and musculoskeletal complications.
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) 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) 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) 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) is characterized by short stature, muscle hypotonia (low muscle tone) and bowing of the limbs.
Vascular EDS (vEDS) causes rupture of an artery at a young age and seen in children with a family history of vEDS.
Symptoms can appear at birth or shortly after and include:
The exact cause of EDS is unknown. A small percentage of children with this condition have a known gene mutation.