Seckel Syndrome & Skull Morphology: Quantifying Characteristics

Seckel Syndrome is a rare genetic disorder which causes morphological changes throughout the body. Some of the most commonly reported changes are those present within the cranium and mandible such as microcephaly, a beak-like nose with convex nasal ridge, and mandibular deformities such as micrognathia. However, these clinical terms provide insufficient information to allow for proper diagnosis or to understand the distortions in physiology that take place with the disease. Therefore, quantification of the features of the skull are necessary to further explain this pathology, and comparisons to normal variation will help to understand the degree to which the anatomy is affected. Seckel Syndrome is classified as a member of the microcephaly family of pathologies; however, our results demonstrate that the overall volume of the skull is not as significantly decreased as the cranial vault itself, which may provide the catalyst for Chiari Type I malformations. The mandible, likewise, is severely altered by Seckel Syndrome decreases in approximately 44% of its volume and demonstrating altered physical proportions. Finally, the osteological measurements of the facial features demonstrated inconsistent findings between different anatomical structures providing evidence that Seckel Syndrome may have a variable effect on the different bones and tissues of the skull.