A 22 year old man presents to his GP after dislocating his shoulder several times. On examination his joints are hypermobile, his skin elasticity is normal, there is no bruising and laboratory investigations are normal. He is tall but his arm span is normal. What is the likely diagnosis?
1.MASS phenotype
2.Marfan syndrome
3.Benign hypermobile syndrome
4.Ehlers danlos syndrome
5.Loeys dietz syndrome
explanation
Hypermobility with no other symptoms is most likely to be benign hypermobility syndrome, which is commonly referred to as being double jointed. Dislocating your shoulder as increases the likelihood of it dislocating again. Ehlers Danlos syndrome is a genetic connective tissue abnormality that is characterised by bruising, soft hyperelastic skin, splitting of the skin during childhood, blue sclerae and hypermobility. Marfan syndrome is characterised by long limbs, hypermobility and problems effecting the eye. Loeys Dietz syndrome is similar to Marfans syndrome but with the unique symptoms of wide spaced eyes, easy bruising and cleft palate. MASS syndrome is similar to Marfans but with prominent mitral valve problems.