Brachydactylous dwarfs of Mseleni

Eight individuals with an unusual dwarfing skeletal dysplasia have been investigated in a remote rural area in Northern Zululand, South Africa. These dwarfed individuals are members of a community numbering some 10,000 persons; approximately 20% have a degenerative arthropathy affecting mainly the major joints of the hips, knees, ankles, and spine. The pathogenesis of the latter disorder, which is known as Mseleni joint disease (MJD), remains obscure. The dwarfed persons have some radiological findings in keeping with MJD, but they are, in addition, of short stature and have marked brachydactyly of their fingers and toes. The pathogenetic relationship between these conditions, if any, is unclear but may have important implications for their causal elucidation.