📂 Diseases
osteogenesis imperfecta type 14 — Definition
Osteogenezis İmperfekta Tip 14 / osteogenesis imperfecta type 14
Osteogenesis imperfekta type 14, characterized by brittleness of bones and easy fracture, is a rare genetic bond tissue disease. This type is usually caused by mutations in TMEM38B gene and shows autozomal resesif inheritance. Fractures, blue sklera, dental anomalies (dentinogenezis imperfekta) and progressive bone deformities can be seen in patients in birth or early childhood. Compared to other types, type 14, with moderate to severely bone brittleness.
Frequently Asked Questions
❓ What is Osteogenezis İmperfekta Tip 14?
Osteogenezis İmperfekta Tip 14; osteogenesis imperfekta type 14, characterized by brittleness of bones and easy fracture, is a rare genetic bond tissue disease. This type is usually caused by mutations in TMEM38B gene and shows autozomal resesif inheritance. Fractures, blue sklera, dental anomalies (dentinogenezis imperfekta) and progressive bone deformities can be seen in patients in birth or early childhood. Compared to other types, type 14, with moderate to severely bone brittleness.
❓ What is osteogenesis imperfecta type 14 in Turkish?
The Turkish equivalent of "osteogenesis imperfecta type 14" is Osteogenezis İmperfekta Tip 14.
❓ Which medical field is Osteogenezis İmperfekta Tip 14 related to?
This term belongs to the Diseases category.