Identifying heritable connective tissue disorders in childhood.

TL;DRAbstract

Heritable connective tissue diseases are rare. Each disorder estimated at 1-10 per 100,000. However, as a group they are prevalent enough to constitute an important diagnostic challenge. Connective tissue disorders most significantly affect three systems: musculoskeletal, ocular and cardiovascular. The cardinal feature of the majority of these disorders is ligamentous laxity, or joint hypermobility. The joints show an increased range of movement, and the child may present with arthralgias, effusions and an increased risk of joint or soft tissue injury. Marfan syndrome is the most common heritable connective tissue disorder. It is an autosomal dominant condition with high penetrance but with striking pleiomorphism. In 25% of individuals there is no family history. The diagnosis is often not made until late childhood. Individuals are tall with a low upper: lower segment ratio and an arm span greater than height. Other skeletal characteristics include pectus deformity and scoliosis. Myopi

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