Facial Dysostosis Panel

Facial dysostosis refers to a clinically and etiologically heterogeneous groups of congenital craniofacial anomalies and arise as a result of abnormal development of the first and second pharyngeal arches and their derivatives during embryogenesis(1). Facial dysostosis can be subdivided into acrofacial dysostoses and mandibulofacial dysostoses; the former presents with craniofacial anomalies similar to the latter but typically with the addition of limb defects. Several distinct facial dysostosis syndromes have been described including Treacher Collins syndrome, mandibulofacial dysostosis with microcephaly, Miller syndrome and Nager syndrome. In addition, clinical overlap exists between facial dysostosis syndromes and known Mendelian conditions like CHARGE syndrome, frontonasal dysplasia, and Feingold syndrome. This panel includes sequence and deletion/duplication analysis of all the listed genes.