<unk> , is a rare, autosomal recessive disease, characterized by diaphyseal dysplasia and metaphyseal dysplasia of the long bones and refractory anemia. It is associated with a deficiency of Thromboxane-A synthase, which produces Thromboxane A2. Although this disease is like Camurati–Engelmann disease where there is also diaphyseal dysplasia, there are, however, reasons to differentiate between the two diseases. As mentioned earlier, both diseases affect diaphysis, but<unk> , affects both the diaphysis, and metaphyses. Also, Camurati–Engelmann disease has no sign of defective haematopoiesis, but<unk>  is associated with a hematological abnormality. This is a rare disease and was characterized in 1988 by<unk>  in several children with anemia and bony dysplasia. Later, in 2008, there was a discovery that a mutation in the gene TBXAS1 cause some of the distinct features in this disease such as increased bone density. Most cases are found in India and the Middle East area, likely meaning a shared gene pool.
Ghosal hematodiaphyseal dysplasia
Pseudo-Hurler polydystrophy
Craniodiaphyseal dysplasia
Sirenomelia
Achondrogenesis type 2
Mesomelia
Acrofrontofacionasal dysostosis
Thanatophoric dysplasia