Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with radiographic changes notably in the spine, similar to spondyloepiphyseal dysplasia tarda. There is also articular cartilage involvement which gives it some clinical resemblance to rheumatoid arthritis. We report here on six subjects from one inbred family from Jordan. Based on previously published reports and this one, we review the clinical and radiological features and discuss the genetics and differential diagnosis of the disorder. We suggest the addition of the word "spondyloepiphyseal" to the name adopted by the International Working Group on Constitutional Diseases of Bone, to become "progressive pseudorheumatoid spondyloepiphyseal dysplasia". We also speculate on candidate genes for this disorder.

Progressive pseudorheumatoid dysplasia is an autosomal recessive skeletal dysplasia with radiographic changes in the spine similar to Spondyloepiphyseal dysplasia tarda and clinical, though not radiographic resemblance to rheumatoid arthritis. About two-thirds of the reported patients are of Arabic and Mediterranean origin which reflects the relative high incidence in this population. We performed homozygosity mapping utilising the DNA pooling approach to map progressive pseudorheumatoid dysplasia to a chromosomal region on the long arm of chromosome 6. We examined a possible candidate gene in the same region of linkage, namely COL10A1, for alterations in this disorder. We did not identify any mutations in our family, but did not totally exclude COL10A1 gene from being the disease-causing gene.

The clinical picture of familial Mediterranean fever (FMF) has been appreciably expanded in the last 10 years. Over 8 years, we studied the expanded clinical profile of FMF in 476 children. Of these, 81% had abdominal pain, 41% chest pain, 42% arthritis, 12% severe myalgia, 12% skin manifestations, 4% scrotal swelling, 3% recurrent episodic fever, and one child (0.2%) developed recurrent hyperbilirubinaemia. Two (0.4%) children developed renal complications which were reversed by colchicine; however of 19 probands, 36 family members suffered from chronic renal failure. Our study indicates a familial predisposition to nephropathy in certain families with FMF. This study is the first to report the expanded clinical profile of FMF in a large group of Arab children, giving an opportunity to compare the findings with those in children with FMF in other ethnic groups, and to help in the study of genotype-phenotype correlation.

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Key Clinical MessageVarious chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD.