📂 Diseases
lethal congenital contracture syndrome 3 — Definition
Letal Konjenital Kontraktür Sendromu 3 / lethal congenital contracture syndrome 3
Letal Congenital Contracture Syndrome 3 is a rare genetic disease, which is fatal in the prenatal or newborn period, showing autozomal resessive transition and is often dead. The disease is characterized by progressive hardness (contracture), muscle weakness and respiratory failure. Generally accompanied by reduction in fetal movements, polyhydmia and multipl congenital abnormalities. This syndrome is especially caused by mutations in PIP5K1C gene and creates a non-communic clinical picture with life.
Frequently Asked Questions
❓ What is Letal Konjenital Kontraktür Sendromu 3?
Letal Konjenital Kontraktür Sendromu 3; letal Congenital Contracture Syndrome 3 is a rare genetic disease, which is fatal in the prenatal or newborn period, showing autozomal resessive transition and is often dead. The disease is characterized by progressive hardness (contracture), muscle weakness and respiratory failure. Generally accompanied by reduction in fetal movements, polyhydmia and multipl congenital abnormalities. This syndrome is especially caused by mutations in PIP5K1C gene and creates a non-communic clinical picture with life.
❓ What is lethal congenital contracture syndrome 3 in Turkish?
The Turkish equivalent of "lethal congenital contracture syndrome 3" is Letal Konjenital Kontraktür Sendromu 3.
❓ Which medical field is Letal Konjenital Kontraktür Sendromu 3 related to?
This term belongs to the Diseases category.