Craniofacial Panel

Craniofacial anomalies are a diverse group of deformities in the growth of the skull and facial bones. Affected individuals may present with only craniofacial anomalies or may have extracranial features, such as anomalies of the limbs or digits. The most common examples of craniofacial disorders include craniosynostosis, frontonasal dysplasia, and cranioectodermal dysplasia. Craniosynostosis describes the premature fusion of one or more of the cranial sutures. This can be associated with increased intracranial pressure, difficulties with vision, hearing and breathing, and facial deformity. Craniosynostosis may be an isolated finding or may be a feature of a syndrome with other clinical findings and/or congenital anomalies. Cranioectodermal dysplasia is a multi-system ciliopathy characterized by skeletal involvement, ectodermal features, joint laxity, growth retardation and characteristic facial features. Craniosynostosis is a primary feature that distinguishes cranioectodermal dysplasia from other ciliopathies. Nephronophthisis is a major cause of morbidity and mortality. Brain malformations and developmental delay may also occur. Frontonasal dysplasia is characterized by combinations of hypertelorism, abnormal nasal configuration, and oral, palatal, or facial clefting, sometimes associated with facial asymmetry, skin tags, ocular or cerebral malformations, widow's peak, and anterior cranium bifidum. This panel includes sequence and deletion/duplication analysis of all the listed genes.