What Do Animal Models Teach Us About Congenital Craniofacial Defects?

• Published in: Advances in experimental medicine and biology Vol. 1236; p. 137
• Main Authors: Ibarra, Beatriz A, Atit, Radhika
• Format: Journal Article
• Language: English
• Published: United States 01.01.2020
• Subjects: Animals; Craniofacial Abnormalities - diagnosis; Craniofacial Abnormalities - prevention & control; Craniofacial Abnormalities - therapy; Disease Models, Animal; Face - embryology; Head - embryology; Humans; Neural Crest - embryology; Skull - embryology
• ISSN: 0065-2598
• DOI: 10.1007/978-981-15-2389-2_6

The formation of the head and face is a complex process which involves many different signaling cues regulating the migration, differentiation, and proliferation of the neural crest. This highly complex process is very error-prone, resulting in craniofacial defects in nearly 10,000 births in the United States annually. Due to the highly conserved mechanisms of craniofacial development, animal models are widely used to understand the pathogenesis of various human diseases and assist in the diagnosis and generation of preventative therapies and treatments. Here, we provide a brief background of craniofacial development and discuss several rare diseases affecting craniofacial bone development. We focus on rare congenital diseases of the cranial bone, facial jaw bones, and two classes of diseases, ciliopathies and RASopathies. Studying the animal models of these rare diseases sheds light not only on the etiology and pathology of each disease, but also provides meaningful insights towards the mechanisms which regulate normal development of the head and face.