Individuals with diastrophic
dwarfism have joint contractures and scoliosis from birth or early infancy.
The DTDST gene (also called SLC26A2) encodes the diastrophic
dysplasia sulfate transporter (DTDST), which is a sulfate/chloride antiporter.
Deficient sulfation of cartilage proteoglycans has been demonstrated in ACG-IB and has been related to a sulfate uptake defect caused by mutations in the diastrophic
dysplasia sulfate transporter gene.
Michael inherited the rare disorder diastrophic
dysplasia, which meant he would never grow beyond his present height.
Finnish team used a new analytical technique called fine-structure linkage disequilibrium mapping to determine the cause of diastrophic
Dawn and Dave Lusted, from Rhos-on-Sea, have two sons, James and Phil, who were born with Diastrophic
Dysplasia, a rare form of dwarfism.
The Lusted family, however, have always taken the condition in their stride, and brothers James and Phil have not let their Diastrophic
Dysplasia hold them back.
James, 23, from Rhos on Sea, near Colwyn Bay, was born with a condition called Diastrophic
Fe gafodd James a'i frawd mawr Philip eu geni gyda chyflwr o'r enw Diastrophic
Dysplasia, sef math o Gorachedd sy'n anghyffredin iawn.
I feel great," said Tiffanie, who stopped growing when she was eight after developing a condition called diastrophic
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
When she was 3, she was diagnosed with diastrophic
dysplasia, a congenital disorder affecting the skeletal system which can cause curvature of the spine, dwarfism and abnormal development of joints and bones.
The dwarf twin from the set Hall studied has diastrophic
dysplasia, a genetic disorder thought to result from mutations on chromosome 5.