Genomics Precision Diagnostic > Prenatal > Craniosynostosis Precision Panel

Craniosynostosis Precision Panel

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).

Overview

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). As well, craniosynostosis can be simple when only one suture fuses prematurely or complex/compound when there is a premature fusion of multiple sutures. Complex craniosynostosis 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

Indication

The Igenomix Craniosynostosis Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations:
- Microcephaly
- Scaphocephaly (elongated head)
- Anterior plagiocephaly
- Brachycephaly
- Torticollis
- Frontal bossing

Clinical Utility

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 surgical procedures to relieve fused sutures, midface advancement, limited phase of orthodontic treatment and combined orthodontics/orthognathic surgery treatment. Monitoring and prevent 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.

Genes & Diseases

Methodology

References

See scientific referrals

Delahaye S, Bernard JP, Rénier D, Ville Y. Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol. 2003 Apr;21(4):347-53. doi: 10.1002/uog.91. PMID: 12704742

Kajdic, N., Spazzapan, P., & Velnar, T. (2018). Craniosynostosis – Recognition, clinical characteristics, and treatment. Bosnian journal of basic medical sciences, 18(2), 110–116. https://doi.org/10.17305/bjbms.2017.2083

Wilkie, A., Johnson, D., & Wall, S. A. (2017). Clinical genetics of craniosynostosis. Current opinion in pediatrics, 29(6), 622–628. https://doi.org/10.1097/MOP.0000000000000542

Kutkowska-Kaźmierczak, A., Gos, M., & Obersztyn, E. (2018). Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. Journal of applied genetics, 59(2), 133–147. https://doi.org/10.1007/s13353-017-0423-4

Wang, J. C., Nagy, L., & Demke, J. C. (2016). Syndromic Craniosynostosis. Facial plastic surgery clinics of North America, 24(4), 531–543. https://doi.org/10.1016/j.fsc.2016.06.008

Azoulay-Avinoam, S., Bruun, R., MacLaine, J., Allareddy, V., Resnick, C. M., & Padwa, B. L. (2020). An Overview of Craniosynostosis Craniofacial Syndromes for Combined Orthodontic and Surgical Management. Oral and maxillofacial surgery clinics of North America, 32(2), 233–247. https://doi.org/10.1016/j.coms.2020.01.004

Jabs, E. (2008). Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clinical Genetics, 53(2), 79-86. doi: 10.1111/j.1399-0004.1998.tb02648.x

Kimonis, V., Gold, J., Hoffman, T., Panchal, J., & Boyadjiev, S. (2007). Genetics of Craniosynostosis. Seminars In Pediatric Neurology, 14(3), 150-161. doi: 10.1016/j.spen.2007.08.008

Lattanzi, W., Barba, M., Di Pietro, L., & Boyadjiev, S. A. (2017). Genetic advances in craniosynostosis. American journal of medical genetics. Part A, 173(5), 1406–1429. https://doi.org/10.1002/ajmg.a.38159

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