Warning Signs Of Carpenter Syndrome

Carpenter syndrome is a disorder characterized by the early fusion of a number of an individual's skull bones, deformities of the toes and fingers, and several other issues with development. Carpenter syndrome is the result of certain inherited genetic mutations that occur in the MEGF8 gene on chromosome 19 and the RAB23 gene on chromosome 6. A physical examination that reveals characteristic deformities and features along with a genetic workup to identify mutations in the RAB23 gene and MEGF8 gene is utilized to diagnose Carpenter syndrome. In the majority of Carpenter syndrome cases, surgery is required to treat the abnormalities in the skull to prevent complications. Surgery to improve the function of other affected body parts like the fingers and toes may be necessary in some cases. Physical, speech, and occupational therapy are also treatment methods used in affected individuals.

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Skull Abnormalities

The hallmark sign of Carpenter syndrome is skull abnormalities present during infancy. A healthy individual has bones in their skull that do not fully fuse to one another until they are around two years old. The skull of an infant contains seven different bones not fused to each other because the brain needs space to be able to grow without the restrictions or limitations of a fully fused skull. However, Carpenter syndrome patients can experience the premature fusing of the skull's fibrous joints, a process referred to as craniosynostosis. As a result of craniosynostosis, the patient has a head that grows irregularly and causes the skull to appear pointed at the top. The abnormalities that occur in the skull of a Carpenter syndrome patient can cause long-term damage to brain tissues. Most severe cases of craniosynostosis are treated within the first six to twelve months of the patient's life. Because the skull continues to grow and change throughout an individual's childhood and adolescence, those affected by Carpenter syndrome may need to have numerous cranial surgeries as they age.

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