diastrophic dysplasia


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diastrophic dysplasia

[MIM*222600]
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.

di·a·stroph·ic dys·pla·si·a

(dī'ă-strō'fik dis-plā'zē-ă)
A skeletal dysplasia characterized by scoliosis, hitchhiker's thumb due to shortening of the first metacarpal bone, cleft palate, malformed ear with calcification, chondritis, shortening of the Achilles tendon, clubbed foot, and characteristic radiologic findings; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q.
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References in periodicals archive ?
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
The phenotypic variability of diastrophic dysplasia.
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride.
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
These data are consistent with a severe derangement in the rate of proteoglycan production and deposition resulting from mutations in the diastrophic dysplasia sulfate transporter gene.
Although mutations in the diastrophic dysplasia sulfate transporter gene are expected to result in complex and multiple chemical abnormalities of the cartilage matrix, the immunohistochemical distribution of biglycan and decorin discloses a major structural change in the overall organization of epiphyseal cartilage matrix, with important implications for the pathogenesis of the abnormal growth and modeling of endochondrally formed bones in ACG-IB.
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type IB homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate).
A rare genetic condition called Diastrophic Dysplasia caused James' dwarfism - both his parents are of average height.
James, who was born with a rare genetic condition called diastrophic dysplasia, said: "I often thought from an early age who would want to marry me, a dwarf from Wales?