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Orthopedic problems can result from multiple conditions such as diastrophic dysplasia and pseudoachondroplasia.
He has Diastrophic dysplasia, a joint fusion disability connected to dwarfism.
Matt's type of dwarfism, diastrophic dysplasia, resulted in numerous childhood surgeries.
She has a form of dwarfism called D.D. (diastrophic dysplasia).
Diastrophic dysplasia is inherited as an autosomal recessive trait.
Matt Roloff, a businessman and motivational speaker, has diastrophic dysplasia dwarfism.
Diastrophic dysplasia is due to mutations in the SLC26A2 gene.
The signs and symptoms of atelosteogenesis, type 2 are similar to those of another skeletal disorder called diastrophic dysplasia.
Matt Roloff was born with diastrophic dysplasia, a degenerative dwarfism that caused him to have fifteen operations as a child.
Two of these diseases, diastrophic dysplasia and congenital chloride diarrhea, are Finnish heritage diseases.
About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth called a cleft palate.
The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias.
In addition, most newborns with diastrophic dysplasia have or develop abnormal fluid-filled sacs (cysts) within the outer, visible portions of the ears (pinnae).
Three rare causes of dwarfism are included in the Finnish heritage: cartilage-hair hypoplasia, diastrophic dysplasia and Mulibrey nanism.
Diastrophic dysplasia (DTD) is an autosomal recessive dysplasia which affects cartilage and bone development.
His younger brother Sam, an artist and founder of Back-Story Underpainting, has diastrophic dysplasia and uses crutches to walk as well.
Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.
Other causes of dwarfism are spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Turner syndrome, osteogenesis imperfecta (OI) and hypothyroidism.
Diastrophic Dwarfism DTD DD Diastrophic Nanism Syndrome None Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital).
In most infants with diastrophic dysplasia, there is also incomplete closure of bones of the spinal column (spina bifida occulta) within the neck area and the upper portion of the back (lower cervical and upper thoracic vertebrae).
The report covers people from all over the UK and whilst many participants have Achondroplasia, there were also participants with many other conditions such as Pseudoachondroplasa, Diastrophic Dysplasia, Spondo-epiphyseal Dysplasia and Hypochondroplasia.