Ehlers-Danlos syndrome 6B

Overview

A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.

Symptoms

* Soft skin * Hyperextensible skin * Moderate skin scarring * Easy bruising * Joint laxity * Scoliosis * Muscle reduced muscle tone * Ocular fragility * Keratoconus * Lysyl hydroxylase deficiency * Infant scoliosis * Progressive scoliosis * Tissue fragility * Arterial rupture * Marfanoid body shape * Small eye * Skeletal osteopenia * Abnormal scarring * Reduced muscle tone * Kyphosis * Metabolic abnormalities * Dislocated hip * Inguinal hernia * Retinal detachment * Vision loss

Diagnosis

signs and symptoms of Ehlers-Danlos syndrome, 6B may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Ehlers-Danlos syndrome, 6B symptoms.