Diastrophic Dysplasia: What It Is, Causes, and Symptoms
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.
Diastrophic Dysplasia - GeneReviews® - NCBI Bookshelf
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 - Pediatrics - Orthobullets
2021年6月17日 · Diastrophic Dysplasia is a rare congenital disorder caused by an autosomal recessive mutation in the DTDST gene leading to a defect in the sulfate transporter protein.
Diastrophic Dysplasia - Johns Hopkins Medicine
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 - Children's Hospital of Philadelphia
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 Cause, Signs, Diagnosis, and Treatment
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 …
Diastrophic Dysplasia Causes & Symptoms - Nemours
Diastrophic dysplasia is a short-limbed form of disproportionate short stature. A person with diastrophic dysplasia may have some or many physical characteristics associated with the condition.
Diastrophic Dysplasia (for Parents) | Nemours KidsHealth
Diastrophic dysplasia happens because of a gene change (mutation). When both parents have the changed gene, their child can inherit one from each of them. Children who get only one gene from one parent don’t have symptoms, but can pass the changed gene to their children.
Diastrophic Dysplasia - Children's Minnesota
Diastrophic dysplasia happens because of a gene change (mutation). When both parents have the changed gene, their child can inherit one from each of them. Children who get only one gene from one parent don’t have symptoms, but can pass the changed gene to their children.
A to Z: Diastrophic Dysplasia (for Parents) - Children's WI - KidsHealth
Diastrophic dysplasia (die-UH-strah-fik dis-PLAY-zhee-uh) is a rare genetic disorder that interferes with bone development causing abnormal bone growth and dwarfism (short stature) with very short arms and legs.