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Achondrogenesis is a lethal disorder characterized by deficient endochondral ossification. abdomen with disproportionately large cranium, and anasarca. Radiological features are characteristic, with virtual absence of ossification of the vertebral column, sacrum and pelvic bones. There are 2 types of achondrogenesis, and differentiation between those types is possible through clinical and radiological andhistological studies. Type I achondrogenesis is of autosomal recessive inheritance with the subtype IB caused by mutations in the diastrophic dysplasia sulfate transporter DTDST gene, and type II achondrogenesis caused by de novo dominant mutations in the collagen type II-1 COL2A1 gene.
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