Ehlers-Danlos syndrome encompasses a clinically and genetically diverse group of heritable connective tissue disorders characterized by congenital fragility of the connective tissues due to insufficient development of collagen

Ehlers-Danlos syndrome encompasses a clinically and genetically diverse group of heritable connective tissue disorders characterized by congenital fragility of the connective tissues due to insufficient development of collagen. There are different subtypes of EDS manifested by various symptoms, however there are two clinical features that occurs in every form of EDS: hypermobility of the joints and stretchability of the skin. Other common symptoms of EDS include bleeding tendency, deformities of the spine and thorax, myopia, strabismus, visceroptosis, and others.
6 main types of EDS
Classical Type
This is an autosomal dominant disease with anormal electrophoretic mobility of the proa 1(V) or proa 2(V) chains of collagen type V.
Characterized by skin hyperextensibility with widened atrophic scars and joint hypermobility. Severity of the skin manifestations can range from mild to severe expression. Observed skin looks smooth and velvety with the evidence of tissue fragility. Other symptoms include hernias and anal prolapse. Hernias may be a post-operative complication. Molluscoid pseudotumors are often found over pressure points and subcutaneous spheroids which are mobile and palpable on the areas of forearms and shins.
Complications of joint hypermobility include sprains, dislocations or subluxations (slight misalignment) and pes planus (flat foot). In the joints like the shoulder, patella and temporomandibular joint recurrent subluxations are especially common. Muscle hypotonia, and delayed gross motor development are also evident for classical type of EDS.
Hypermobile Type
This is an autosomal dominant disease with no distinctive biochemical collagen finding identified up to date, thought some patients have a mutation in the TNXB gene.
The main clinical manifestation of this type of EDS is generalized joint hypermobility affecting large and small joints. Skin hyperextensibility and bruising tendencies are both variable. Recurring dislocations of the joints are very common, especially in the joints like the shoulder, patella, and temporomandibular joint.
People with Hypermobile Type of EDS are often complaining about persistent joint and limb pain. Musculoskeletal pain usually occurs early or it can become chronic. The anatomical distribution is wide, tender points are often elicited.