Cleft Lip and Palate (CLP) are a group of malformations of unknown etiology with overlapping phenotypes affecting both females and males. They are the most common congenital malformations of the craniofacial region. Cleft lip and palate can be an isolated finding (non-syndromic), or they can present as a syndromic form. In general, sporadic cases with no family history are related to environmental risks, while the presence of one or more affected relatives strongly suggests that genetic factors are the main contributor. The etiology is multifactorial including both genetic predisposition and environmental factors. Individuals with cleft lip and/or palate may experience difficulties with feeding, talking, hearing and social integration. Typically, individuals affected with these disorders have a higher morbidity and mortality throughout life than do unaffected individuals.
The Igenomix Cleft Lip and Palate Precision Panel can be used to make a directed and accurate diagnosis of syndromic versus nonsyndromic causes of cleft lip and/or palate 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:
Voigt, A., Radlanski, R. J., Sarioglu, N., & Schmidt, G. (2017). Lippen-Kiefer-Gaumen-Spalten [Cleft lip and palate]. Der Pathologe, 38(4), 241–247. https://doi.org/10.1007/s00292-017-0313-x
Abualfaraj, R., Daly, B., McDonald, F., & Scambler, S. (2018). Cleft lip and palate in context: Learning from, and adding to, the sociological literature on long-term conditions. Health (London, England : 1997), 22(4), 372–388. https://doi.org/10.1177/1363459317693409
Farronato, G., Cannalire, P., Martinelli, G., Tubertini, I., Giannini, L., Galbiati, G., & Maspero, C. (2014). Cleft lip and/or palate: review. Minerva stomatologica, 63(4), 111–126.
Worley, M. L., Patel, K. G., & Kilpatrick, L. A. (2018). Cleft Lip and Palate. Clinics in perinatology, 45(4), 661–678. https://doi.org/10.1016/j.clp.2018.07.006
Mossey, P. A., Little, J., Munger, R. G., Dixon, M. J., & Shaw, W. C. (2009). Cleft lip and palate. Lancet (London, England), 374(9703), 1773–1785. https://doi.org/10.1016/S0140-6736(09)60695-4
Dental Supplement, Candotto, V., Oberti, L., Gabrione, F., Greco, G., Rossi, D., Romano, M., & Mummolo, S. (2019). Current concepts on cleft lip and palate etiology. Journal of biological regulators and homeostatic agents, 33(3 Suppl. 1), 145–151.
Setó-Salvia, N., & Stanier, P. (2014). Genetics of cleft lip and/or cleft palate: association with other common anomalies. European journal of medical genetics, 57(8), 381–393. https://doi.org/10.1016/j.ejmg.2014.04.003
