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Ehlers-Danlos syndrome

Inherited collagen defects in collagen in the extracellular matrices of various tissues.

Clinical suspicion & diagnosis

The unifying themes among the disorders are

  • fragility of tissues
  • joint hypermobility
  • skin hyperextensibility.

These features plus the presence of a family history of the exact same subtype of EDS suspected are the hallmarks of diagnosis.

Classical Type
(formerly Types I & II)

Marked joint hypermobility, skin hyperextensibility (laxity), and fragility.  Autosomal dominant inheritance.

Hypermobility Type
(formerly Type III)

Joint hypermobility is the major manifestation. Autosomal dominant.

Vascular Type
(formerly Type IV, the arterial form)

Spontaneous rupture of arteries and bowel is a serious manifestation that can lead to death. Autosomal dominant.

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Kyphoscoliosis Type
(formerly Type VI)

Severe curvature of the spine (scoliosis). Fragile globe of the eyes, significant skin and joint laxity are typical features. Inherited as autosomal recessive.

Arthrochalsia Type
(formerly type VIIB, arthrochalasis multiplex congenita)

Patients are short in height and severely affected by joint laxity and dislocations. Skin involvement is variable. Autosomal dominant and recessive inheritance is possible.

A skin biopsy can be used to diagnose this disorder.

Dermatosparaxis Type
(formerly Type VIIC)

Patients have severely fragile skin that is soft and doughy with sagging and folding. This rare form of Ehlers-Danlos can be diagnosed with a skin biopsy.

Other rare variant types have been reported in single families.

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