Cranio Genomics

Neuroanatomical Development

Although a linear relationship between skull distortion, ICP, and neurocognitive deficits has generally been assumed, recent studies have postulated an interactive process between the skull and developing brain that results in neuroanatomical changes that are not limited to areas directly beneath the fused suture.

The specific neuropsychological deficits identified in children with SSC including problems with attention and planning, processing speed, visual spatial skills, language, reading, and spelling may be related to the anatomic differences that persist after correction of suture fusion. In the last decade, research on craniosynostosis has progressed from the description of gross abnormalities to the understanding of the genetic basis of certain cranial deformities.

In about 40% of cases craniosynostosis seems to be syndromal (caused by a genetic alteration), for example when multiple sutures are involved, when a patient shows other congenital anomalies or when a patient shows symptoms of growth or developmental retardation.

In 1993 Jabs et al. was first to describe a genetic mutation located in the MSX2 gene that causes craniosynostosis. After this discovery the genetic cause of the most common syndromes have been described. Mutations have been found in Fibroblast Growth Factor Receptor (FGFR) 1 and FGFR2 for Pfeiffer syndrome, in FGFR2 for Apert and Crouzon, in FGFR3 for Muenke syndrome and in TWIST1 for Saethre-Chotzen syndrome. These genetic alterations are found in only a small part of the apparently syndromal craniosynostosis patients. 

Mutations in the following genes have been functionally linked to craniofacial development.



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