Table of Contents
What is the most common cause of death with lethal skeletal dysplasia?
As a result, the chest and lungs of babies with lethal skeletal dysplasias do not fully develop. These conditions are associated with intrauterine death or death soon after delivery in most cases. The most common of the lethal skeletal dysplasias include thanatophoric dysplasia, and Type II osteogenesis imperfecta.
What is the most common lethal skeletal dysplasia?
The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, and achondrogenesis. Thanatophoric dysplasia and achondroplasia account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.
How common is lethal skeletal dysplasia?
Skeletal dysplasias are estimated to affect 2.4 per 10,000 births. Some forms of skeletal dysplasia can be diagnosed by ultrasound before birth. Severe types may be fatal.
What causes skeletal dysplasia in pregnancy?
Some skeletal dysplasias are commonly caused by a new mutation, not present in the parents, which occurred in the fetus in early pregnancy, while others are caused by the baby inheriting two copies of the same defective gene, one from each parent.
Can skeletal dysplasia be fatal?
Some skeletal dysplasias cause very abnormal bone growth. In these cases, the chest and lungs do not fully develop and the baby cannot survive. These conditions are called lethal skeletal dysplasias. Lethal skeletal dysplasias occur in about 1 of every 10,000 births.
Is skeletal dysplasia fatal?
Certain skeletal dysplasia conditions can be fatal. These deaths occur when the bony chest cavity fails to grow normally, preventing normal lung development and resulting in lungs that are too small to support the baby’s breathing after birth—a condition known as lethal pulmonary hypoplasia.
How long do people with skeletal dysplasia live?
About half of fetuses with skeletal dysplasia are stillborn or die within the first six weeks of life. But not all children with dysplasias have severe medical problems. Many of these children can live relatively normal lives.
What does a baby with skeletal dysplasia look like?
If your child is born with skeletal dysplasia, they will have abnormal differences in the size and shape of their legs, arms, trunk, or skull. They may be very short in stature. They may also have arms and legs that aren’t in normal proportion with the rest of their body. Skeletal dysplasia is a genetic condition.
Is skeletal dysplasia curable?
Though there is no cure for skeletal dysplasia, there are a wide range of different treatment options depending on type. As your child matures, growth hormone therapy may be appropriate. Orthopedic surgery may also be necessary.