Ehlers-Danlos syndrome- classic type
Overview
A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
Symptoms
* Hyperextensible skin * Widened thin scars * Joint hypermobility * Smooth velvety skin * Molluscoid pseudotumours * Joint dislocations * Muscle reduced muscle tone * Easy bruising * Hernia * Cervical insufficiency * Abnormal wound healing * Smooth skin * Velvety skin * Fragile skin * Joint dislocation * Delayed motor development * Fatigue * Muscle cramps * Mitral valve prolapse * Tricuspid valve prolapse * Aortic root dilatation * Spontaneous rupture of large arteries * Arachnodactyly * Eczema * Flat foot * Glaucoma * Emphysema * Long foot * Long nose * Large nose * Bulbous nose * Lordosis * Pectus carinatum * Talipes varus * Talipes valgus * Scoliosis * Purpura * Scoliosis * Triangular face * Tongue abnormalities * Vascular hypertension * Ear cartilage deficiency * Anodontia * Blue sclerae * Epicanthal folds * Long rib cage * Mental retardation * Small corneas * Small teeth * Myopia * Overlapping toes * Retinal detachment * Short stature * Renal tube defect
Causes
In the majority of cases, transmission of classical EDS is autosomal dominant. Defective synthesis of type V collagen, a minor type of fibrillar collagen combining two alpha1(V) chains and one alpha2(V) chain has been detected in approximately 35% of cases, in which mutations in the COL5A1 and COL5A2 genes encoding these chains have been identified.
Treatment
Treatment is symptomatic (antalgics, orthosis and physiotherapy). Psychosocial management may also be recommended.