Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder characterised by permanent neonatal diabetes mellitus, short stature, and hepatic dysfunction. Skeletal survey in patients show findings suggestive of spondyloepiphyseal dysplasia. These include platyspondyly with irregular upper and lower end-plates of vertebrate. The epiphyses in general appear small and flattened with fragmentation. There is usually generalized osteoporosis, narrow iliac wings, coaxa valga with hip dislocation and lateral displacement of the femoral epiphyses. The carpal centres of the hands are usually small and irregular, and the middle phalanges can be short. Some epiphyses appear dense or ivory-like.
Multiple epiphyseal dysplasia with early-onset diabetes mellitus results from mutations in the EIF2AK3 gene.