Craniosynostosis is defined as the premature fusion of one or more cranial sutures, often resulting in abnormal head shape. It is a developmental craniofacial anomaly resulting from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). Craniosynostosis can be defined as simple when only one suture fuses prematurely, or complex/compound, when there is premature fusion of multiple sutures. Complex raniosynostosis are usually associated with other body deformities. The main morbidity risk is the elevated intracranial pressure and subsequent brain damage. When left untreated, craniosynostosis can cause serious complications such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, eye anomalies and psychosocial disturbances. In approximately 85% of the cases, this disease is isolated and nonsyndromic. Syndromic craniosynostosis usually present with multiorgan complications.
The Igenomix Craniosynostosis Precision Panel can be used to make a directed and accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment in the form of surgical procedures to relieve fused sutures, midface advancement, limited phase of orthodontic treatment and combined orthodontics/orthognathic surgery treatment. Monitoring and prevention of complications of elevated intracranial pressure.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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