achondrodysplasia, type 1B
achondrodysplasia, type 1BAn autosomal recessive form (OMIM:600972) of chondrodysplasia characterised by extremely poor skeletal development, resulting in a short trunk, disproportionately large head, protuberant abdomen, hydropic appearance, micromelia and perinatal death.
Caused by defects of SLC26A2, which encodes a sulfate transporter critical for cartilage formation that may play a role in enchondral bone formation.
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