Carpenter Syndrome - Research Paper Example

Full English 101 01 January Developments in the Carpenter Syndrome Research Literature “The Carpenter syndrome is a rare autosomal recessive disorder characterized by craniosynostosis, polysyndactyly, obesity, and hypogonadism” (Frias, Felman and Rosenbloom 191). Typically, the preaxial polydactyly of the feet is a symptom of the disorder, although it has been argued that it is not an absolute requirement for a diagnose of Carpenter syndrome, which allows a comorbid diagnosis that includes Summitt and Goodman syndromes within the clinical spectrum of Carpenter’s (Rice 100).

The most common craniofacial deformity found in Carpenter syndrome patients is a tower-spaded skull, which is known as craniosynostosis. 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.

“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.Other treatment options available to Carpenter syndrome patients are operations to remove extra or webbed digits from children, which works only to improve appearance—not functionality of the body parts. Children with Carpenter syndrome tend to suffer from cognitive deficits, which may be treatable through speech therapy and occupational therapy to help the patients achieve independence.

Lastly, traditional treatments for obesity are also available for individuals with Carpenter’s syndrome that help to reduce the constellation of health problems (including congenital heart disease) associated with having too much body fat.Overall, Carpenter syndrome is an unfortunate problem for a very small number of people that has a very well described cause and effect on the body and mind. Luckily, however, it is not a fatal problem that can be addressed through a number of available treatments.

Carpenter syndrome helps to aid the medical community’s knowledge of genetics by associating its various symptoms with a particular region of the sixth chromosome in humans. By studying Carpenter syndrome and its various physical/mental effects on patients, practitioners can learn more about similar disorders such as Summitt’s, Goodman’s, and Down’s syndromes.Works CitedCohen, Donald M., et al. "Acrocephalopolysyndactyly type II—Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

" American Journal of Medical Genetics, 28 (1987): 311-324.Frias, J.L., et al. "Normal intelligence in two children with carpenter syndrome." American Journal of Medical Genetics, 2 (1978): 191-199.Jamil, M.N., Carys M. Bannister and Gillian Ward. "Carpenters syndrome (acrocephalopolysyndactyly type II) with normal intelligence." British Journal of Neurosurgery, 6 (1992): 243-247.Jenkins, Dagan, et al. "RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity.

" The American Journal of , 80 (2007): 1162–1170.Perlyn, C.A. and J.I. Marsh. "Craniofacial dysmorphology of Carpenter syndrome: Lessons from three affected siblings." Plastic and Reconstructive Surgery, 121 (2008): 971-981.Rice, David P. Craniofacial Sutures: Development, Disease and Treatment. New York: Karger Publishers, 2008.