Individuals with diastrophic
dwarfism have joint contractures and scoliosis from birth or early infancy.
A chondrodysplasia family produced by mutations in the diastrophic
dysplasia sulfate transporter gene: genotype/phenotype correlations.
(1,3-6,9,10) Even though it has been established that ACG-IB is caused by mutations in the diastrophic
dysplasia sulfate transporter gene, (3-6) the mechanism by which these mutations lead to the severe bone phenotype has never, to our knowledge, been investigated at tissue level.
James' condition is called Diastrophic
Dysplasia, which affects one in every 100,000 babies.
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.
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
Michael inherited the rare disorder diastrophic
dysplasia, which meant he would never grow beyond his present height.
The dwarf twin from the set Hall studied has diastrophic
dysplasia, a genetic disorder thought to result from mutations on chromosome 5.
Phil, from Rhos-on-Sea, North Wales, has diastrophic
dysplasia - a disorder of cartilage and bone development.
He said his aim was to raise awareness about his condition, diastrophic
dysplasia, which means he stands at 3ft tall.
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.
James, 23, from Rhos on Sea, near Colwyn Bay, was born with a condition called Diastrophic