Pfeiffer syndrome is a genetic disorder in which certain skull bones fuse early and prevent the skull from growing normally. This affects the shape of the head and face. In addition patients have sunken mid-face, broad, short thumbs and large toes, and possible webbing of hands and feet. Most children with Pfeiffer syndrome are of normal intelligence.
Pfeiffer syndrome occurs in one out of 100,000 babies. It is a clinical diagnosis, and a gene mutation can be found by testing for particular genetic mutations. If one parent has Pfeiffer syndrome, there is a 50 percent chance that his child will be born with the disorder. It is possible for individuals who have Pfeiffer syndrome to elect to not pass on this trait. Using in-vitro fertilization and selecting embryos for implantation that do not have the Pfeiffer mutation. Unaffected parents who have one child with Pfeiffer syndrome rarely give birth to a second child with the condition.
The care of a child born with Pfeiffer syndrome is very complex, and is best provided by a comprehensive craniofacial team at one of the major craniofacial centers. Depending on the severity of the disorder, your child may require some or all of the following surgeries:
- Surgery to re-shape the skull
- Surgery to bring the midface forward
- Jaw surgery
- Surgery to correct eye problems