A type of genetic disorder, Pfeiffer syndrome affects the development of the skull. When joints in bone tissue fuse too early, continued brain growth can cause facial deformities, such as bulging eyes.
The prognosis of Pfeiffer syndrome typically depends on the severity of the condition. However, some children with Pfeiffer syndrome go on to lead normal, healthy lives.
Pfeiffer syndrome is divided into three classes:
All three types require treatment to avoid health complications. With type 2 and 3 Pfeiffer syndrome, effects can be life-threatening, which means that timely treatment is a must.
Early fusion of the joints within the skull causes distinct facial effects, including:
Pfeiffer syndrome can also impact the appearance of the fingers and toes. In some cases, it can cause webbing to develop between the fingers and toes.
This condition results from a genetic abnormality that affects bone growth. In some cases, a parent can pass along the defective gene to their child. In others, genetic abnormalities can occur on their own.
Doctors often recommend surgery to address issues with the skull, and these procedures can reduce pressure around the brain. Cosmetic procedures may also be recommended, which can address the facial deformities caused by Pfeiffer syndrome.
While the condition can’t be cured, treatment of Pfeiffer syndrome can significantly improve a child’s quality of life. Children with the type 1 form of the disorder typically experience a normal lifespan when they receive appropriate treatment.