title: Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies.
abstract: Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that ∼30% of ciliopathies could be primarily defined by their craniofacial phenotype. The link between the cilium and the face has proven significant, as several new "craniofacial ciliopathies" have recently been diagnosed. Herein, we reevaluate public disease databases, report several new craniofacial ciliopathies, and propose several "predicted" craniofacial ciliopathies. Furthermore, we discuss why the craniofacial complex is so sensitive to ciliopathic dysfunction, addressing tissue-specific functions of the cilium as well as its role in signal transduction relevant to craniofacial development. As a whole, these analyses suggest a characteristic facial phenotype associated with craniofacial ciliopathies that can perhaps be used for rapid discovery and diagnosis of similar disorders in the future.
authors.affiliation: Division of Plastic Surgery, Department of Surgery, and Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229.
authors.forename: Elizabeth N
authors.initials: EN
authors.lastname: Schock
authors.affiliation: Division of Plastic Surgery, Department of Surgery, and Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229.
authors.forename: Samantha A
authors.initials: SA
authors.lastname: Brugmann
mesh_terms: D000072661:Ciliopathies / Q000150:complications / Q000209:etiology / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000209:etiology / Q000473:pathology*; D006257:Head / Q000196:embryology; D053823:Hedgehog Proteins / Q000378:metabolism / Q000502:physiology; D006801:Humans; D009432:Neural Crest / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D053823:Hedgehog Proteins