diastrophic dysplasia


Also found in: Acronyms, Wikipedia.

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.
Mentioned in ?
References in periodicals archive ?
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Hum Genet 1996;98:657-61.
Growth in diastrophic dysplasia. J Pediatr 1997;130:641-6.
The phenotypic variability of diastrophic dysplasia. J Pediatr 1978;93:609-13.
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.
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.
James was born with diastrophic dysplasia, a form of dwarfism.
Cafodd James ei eni efo'r cyflwr Diastrophic dysplasia, ond mae o wedi mynnu byw bywyd mor llawn a phosib, a dydy o ddim yn hoff iawn o'r gair "anabl".
James, who has diastrophic dysplasia, a rare form of dwarfism, said: "I was really surprised to come away with some medals from Birmingham this year.
DIASTROPHIC dysplasia affects about one in 100,000 births and is a disorder of cartilage and bone development.
About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate).