What is Pfeiffer Syndrome?

Pfeiffer syndrome is a genetic condition that causes premature fusion of the bones in the skull, which can lead to craniofacial abnormalities. There are a number of genetic conditions involving early fusion of the bones in the full, known generally as craniofacial disorders. There are three forms of Pfeiffer syndrome, with types II and III being more severe than type I. This condition has been recognized since the 1960s and is relatively rare.

The condition involves anomalies on the eighth and tenth chromosomes. Instead of allowing the sutures of the skull to remain flexible so the skull can grow, the process of fusing those futures starts too soon. The midface tends to be underdeveloped and the skull can have a strange appearance because growth was arrested early. Many patients experience hearing problems, protruding eyes, and dental issues as a result of the fact that the structures associated with the face try to keep growing even after the skull fuses. In patients with types II and III, developmental delays can occur because the brain is not allowed to fully develop.

Patients with Pfeiffer syndrome also tend to have unusually large thumbs and big toes, and some experience webbing between the fingers and toes. Options for treatment of this condition can include surgery to address the facial structure. Depending on whether the brain is involved, some patients may lead active, healthy lives with a normal degree of cognitive development. Other patients may experience cognitive impairments and can require personal aides and other assistance to help with tasks they cannot complete on their own.

If one parent has Pfeiffer syndrome, there is a 50 percent chance that any children will also have the condition, as they only need to inherit one copy of the gene involved. In cases where both parents have the condition, their children have a high chance of inheriting it, although it is possible to inherit two healthy genes from the parents. Spontaneous mutations, where a child develops Pfeiffer syndrome and there is no history of this condition in the parents, do occur, although they are rare. In these cases, any future children shouldn't have this disorder.

People concerned about genetic conditions and their children can elect to have genetic testing before pursuing a pregnancy to learn if there are any conditions they might pass on in their genes. If there are, a genetic counselor can provide advice on moving forward with a pregnancy; parents may want to get informed about what to expect if their children inherit a disorder, or can discuss the use of assisted reproductive technology to limit the risks of passing the condition on to their children.