Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebra and epiphyseal centres, resulting in a short-trunk disproportionate dwarfism. The Omani Type of SED is an autosomal recessively transmitted disorder, characterized by a severely reduced adult height even though the height is normal at birth, severe progressive kyphoscoliosis, joint dislocations and arthritic changes, genu valgum, cubitus valgus, brachydactyly, camptodactyly, and microdontia. No impairment is noticed in the mental abilities. Joint movements are severely restricted due to the arthropathy and contractures.
Megarbane and Ghanem, 2005, described a Lebanese boy, born to consanguineous parents, with short stature and multiple dislocations. The authors raised the possibility of this being a distinct syndrome. Further, Megarbane, 2007, reported on a second Lebanese child with similar symptoms.