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.