diastrophic dysplasia

(redirected from diastrophic dwarfism)
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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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Despite being just 2ft 5in and living in constant pain, brave Joanne, who was born with diastrophic dwarfism, was a well-respected member of the club's disabled supporters association until her death this month.
At first it was assumed Tanyalee, who has Diastrophic Dwarfism, wouldn't survive infancy, or go on to have a normal adult life.
The differential diagnosis for this radiographic appearance in the context of the clinical findings includes achondroplasia, MED, spondyloepiphyseal dysplasia congenita, diastrophic dwarfism, and metatrophic dwarfism.
The 25-year-old uses a power wheelchair to get around, needs assistance with all everyday tasks and has to take daily medication to cope with diastrophic dwarfism.