📂 Diseases
autosomal dominant cutis laxa 3 — Definition
Otozomal dominant kutis laksa tip 3 / autosomal dominant cutis laxa 3
Autozomal dominant poleis lacquer type 3 is a rare genetic disease characterized by the appearance of the skin sagging, wrinkle and elasticity, depending on the abnormal structure of elastic fibers. The disease is caused by mutations in the LTBP4 gene and indicates autosomal dominant inheritance. In addition to skin sagging among clinical findings, cardiovascular abnormalities (such as aoretic aneurise), pulmonary amplification and joint hypermobility can be included. The diagnosis, clinical evaluation and genetic tests; the treatment is symptomatic and supporting.
Frequently Asked Questions
❓ What is Otozomal dominant kutis laksa tip 3?
Otozomal dominant kutis laksa tip 3; autozomal dominant poleis lacquer type 3 is a rare genetic disease characterized by the appearance of the skin sagging, wrinkle and elasticity, depending on the abnormal structure of elastic fibers. The disease is caused by mutations in the LTBP4 gene and indicates autosomal dominant inheritance. In addition to skin sagging among clinical findings, cardiovascular abnormalities (such as aoretic aneurise), pulmonary amplification and joint hypermobility can be included. The diagnosis, clinical evaluation and genetic tests; the treatment is symptomatic and supporting.
❓ What is autosomal dominant cutis laxa 3 in Turkish?
The Turkish equivalent of "autosomal dominant cutis laxa 3" is Otozomal dominant kutis laksa tip 3.
❓ Which medical field is Otozomal dominant kutis laksa tip 3 related to?
This term belongs to the Diseases category.