achondrodysplasia, type 1B

(redirected from achondrogenesis, Fraccaro type)

achondrodysplasia, type 1B

An 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.

Molecular pathology
Caused by defects of SLC26A2, which encodes a sulfate transporter critical for cartilage formation that may play a role in enchondral bone formation.