short-rib thoracic dysplasia 9 ne demek?

Short-rib thoracic dysplasia 9 (SRTD9) is a rare genetic disorder that affects the development of bones in the torso, including the ribs and spine. It is caused by mutations in the IFT172 gene, which is involved in the formation and function of cilia, tiny hair-like structures on the surface of cells that play a role in cell signaling and development.

Symptoms of SRTD9 can include short stature, short and abnormal ribs, a narrow chest, scoliosis, and problems with breathing and lung function. The condition can also affect other parts of the body, including the eyes, kidneys, and heart.

Treatment for SRTD9 is focused on managing symptoms and complications, including breathing support, surgery for scoliosis, and therapies for other organ systems that may be affected. There is currently no cure for SRTD9, and the prognosis depends on the severity of the symptoms and complications.