DHCR7 and craniosynostosis: 18 Defects of primary cilia cause various deformities, including craniofacial abnormalities (altogether known as ciliopathies, a group of genetic syndromes associated with defects in primary cilia).19,20 The broad-spectrum phenotypes in Dhcr7−/− mice and individuals with SLOS11 (e.g., presenting with craniofacial anomalies such as craniosynostosis, hypertelorism, and cleft palate, as well as immature lungs and enlarged bladders) are similar to those seen in ciliopathies.