Spondyloepimetaphyseal dysplasia joint laxity is a rare hereditary growth disorder which is characterized by dwarfism, abnormal alignment of the spine and tendency for joint dislocation. The condition can affect the development and growth of the spine leading to paraplegia, meaning the loss of strength in arms and legs. It may also affect development of the lungs and heart leading to life-threatening breathing complications and/or heart failure. Survival to adulthood is unusual.
The condition has been reported primarily in South Africa, however there have been reports of a small number of cases of spondyloepimetaphyseal dysplasia joint laxity in Europe, North America, and South America.