Definition: 'Diastrophic Dysplasia'
diastrophic dysplasia
Type: Term
Definitions:
1. 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.
Synonyms:
diastrophic dwarfism
The information shown above for diastrophic dysplasia is provided by Stedman's.
* Stedman's, part of Lippincott Williams & Wilkins, provide a comprehensive line of health-science publications for healthcare professionals and medical students.
Stedman's Medical Dictionary. Copyright © 2006 Lippincott Williams & Wilkins. All rights reserved.
