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Ehlers-Danlos syndrome (EDS) is a condition where abnormalities of collagen
production result in bruising, wide scars, laxity of joints and hyperelasticity
of the skin. The first sign of this disorder may be premature rupture of
the membranes. There may be herniae, bleeding from the gastrointestinal tract,
and dissection aneurysms of the aorta at an early age. Lifespan is not
affected unless there is marked vascular fragility (EDS type IV). There
are six different types of EDS is characterized by different genetic defects e.g.
type II is a result of COL52A mutations - likely that most variants result
from abnormalities in types I, III or V collagen
The overall frequency
of the condition is 1/150,000 in the UK. Notes: - there is little
risk of mistaking EDS type I (with the full picture of hypermobile joints supplemented
by quite characteristic elasticity of the skin and abnormal papyraceous scars
together with a varying number of orthopaedic deformities such as talipes, kyphoscoliosis
and severe spondylolisthesis) with benign joint hypermobility syndrome (BJHS)
- however
EDS type II is simply a milder variant and the main diagnostic difficulty comes
in attempting to separate type III from BJHS
Reference: - ARC
(February 2005). Topical Reviews - Heritable Collagen Disorders.
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