Carpenter Syndrome.


The obesity characteristic of sufferers also tends to produce a reduced average height, generally in the 25th percentile within the population (Cohen, Green and Miller), as well as mental retardation even though some patients have above average intelligence within the population (Frias, Felman and Rosenbloom). As a result of obesity, later in life Carpenter syndrome sufferers are more likely to suffer from congenital heart disease.

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“The inheritance of Carpenter syndrome is autosomal recessive and until 2001 only cases had been reported” (Rice 100). Recent research associates Carpenter syndrome with mutations in the RAB23 gene on the sixth chromosome (Jenkins, Seelow and Jehee). “The recent identification of genomic errors associated with several of the more rare craniosynostotic syndromes such as Pfeiffer syndrome has simplified the separation of Carpenter syndrome from other similar phenotypes by genetic exclusion” (Perlyn and Marsh 971).

Because it results from a genetic mutation, Carpenter’s syndrome cannot be cured with traditional modalities. however, an operation to correct sagittal and bicoronal craniosynostosis must be performed within the first year of infancy. Undergoing the operation relatively early in development allows a much higher likelihood of success, and the surgery itself is easier to perform when the skull is higher in plasticity (Jamil, Bannister and Ward). During this operation, the surgeon forcibly breaks the fused structures in the cranium that defines craniosynostosis, which allows for the cranium to growth further. Subsequently, the surgeon removes cranial plates, reshapes them, and then replaces them in order to allow them to grow normally. Such operations work only part of the time as broken sutures quickly refuse.

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