📂 Diseases
nail-patella syndrome — Definition
Tırnak-diz kapağı sendromu / nail-patella syndrome
Nail-design cover syndrome is a rare genetic disease that leads to abnormalities in nails, knee covers and other skeleton structures. The disease is characterized by absence or shape disorder, especially in thumb nails, smallness or absence in knee caps. In addition, additional systemic findings such as protrusions (iliac horns) and kidney failure can also be seen. Autozomal indicates dominant inheritance and is caused by mutations in the LMX1B gene.
Frequently Asked Questions
❓ What is Tırnak-diz kapağı sendromu?
Tırnak-diz kapağı sendromu; nail-design cover syndrome is a rare genetic disease that leads to abnormalities in nails, knee covers and other skeleton structures. The disease is characterized by absence or shape disorder, especially in thumb nails, smallness or absence in knee caps. In addition, additional systemic findings such as protrusions (iliac horns) and kidney failure can also be seen. Autozomal indicates dominant inheritance and is caused by mutations in the LMX1B gene.
❓ What is nail-patella syndrome in Turkish?
The Turkish equivalent of "nail-patella syndrome" is Tırnak-diz kapağı sendromu.
❓ Which medical field is Tırnak-diz kapağı sendromu related to?
This term belongs to the Diseases category.