Diastrophic dysplasia is a rare congenital disorder that affects the normal development of cartilage and bone. People with the condition often have short stature, short arms and legs, and problems with their joints.

2023年1月25日 · Diastrophic dysplasia (DTD) is a type of skeletal dysplasia, a group of conditions often resulting in dwarfism. DTD may cause a person to have short stature and very short arms and legs. DTD...

2004年11月15日 · Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis.

Diastrophic dysplasia is a disorder of cartilage and bone development that leads to an onset of joint pain and deformity. It is a rare genetic condition that causes dwarfism, where a child’s legs and arms do not grow and develop to the typical adult length.

Diastrophic dysplasia has an autosomal recessive pattern of inheritance. It is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein encoded by this gene is essential for the normal development of cartilage and for its conversion to bone.

Diastrophic dysplasia is a rare genetic disorder that is autosomal recessive, meaning an abnormal gene is received from each parent. The condition causes decreased sulfate content in the body, which affects cartilage.

Diastrophic dysplasia is caused by mutations in the gene coding for a sulfate transporter protein. Sulfate transport is essential for typical cartilage function.

Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone.

Diastrophic dysplasia is a disorder of cartilage and bone development. Diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis).

2021年12月8日 · Diastrophic dysplasia [4] is a recessively inherited chondrodysplasia, one that is particularly common in Finland. This term describes dwarfism with perhaps the most numerous and severe...