Carpenter syndrome is an extremely rare condition affecting the skull and facial bones, as well as the bones of the hands and feet. It is estimated to occur in approximately one in one million births.
Carpenter syndrome is most likely caused by a gene mutation. Each parent must have the abnormal gene for the child to be born with Carpenter syndrome. When both parents are carriers, they have a one in four chance that they have a baby with Carpenter syndrome.
Carpenter syndrome is characterized by an abnormal fusion of the specialized joints (cranial sutures) between the plates of bone that make up the skull. Normally, these flexible joints allow the skull bones to expand as a child’s brain grows rapidly. If some of the sutures fuse abnormally, it can cause an abnormal skull shape. Children with Carpenter syndrome often develop a characteristically tall and pointed-shaped skull.
Children with Carpenter syndrome may be born with underdeveloped bones of the midface (between the eyes and nose), a high arched palate (roof of the mouth) and low-set, small ears. These children also frequently have abnormalities of the hands and feet, including the presence of extra fingers and toes, webbing of the fingers or toes, and shorter than normal fingers and toes. Heart defects and developmental delays are also common in children with Carpenter syndrome.
The diagnosis of Carpenter syndrome may first be suspected based on the abnormal skull shape and characteristic facial features. The suspected diagnosis is confirmed by a blood test to check for the gene mutation. This genetic work-up is often overseen by a geneticist who is familiar with craniofacial syndromes.
The treatment of Carpenter syndrome is focused on correction of the abnormal skull shape. It is the same as the treatment of craniosynostosis. Surgical correction of the craniosynostosis associated with Carpenter syndrome is most often initiated between 6 and 12 months of age.
Following surgery, your baby will spend at least one night in the pediatric intensive care unit prior to being transferred to a regular pediatric bed. You can anticipate that your baby will spend anywhere from 2-5 days in the hospital following craniosynostosis surgery.
Children with Carpenter syndrome may also require surgical correction of their cardiac defects. In some instances, these children may also benefit from surgery to remove extra fingers or toes or to separate fingers and toes that are joined together.