Definition: a skeletal dysplasia characterized by scoliosis, hitchhiker thumb due to shortening of the first metacarpal bone, cleft palate, malformed ear with calcification, chondritis, shortening of the calcaneal tendon, clubbed foot, and characteristic radiologic findings; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q.
Synonym(s): diastrophic dwarfism
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