@inproceedings{631408d81c6d41aa8d3e03007d371721,
title = "Mouse Models of Rare Craniofacial Disorders",
abstract = "A rare disease is defined as a condition that affects less than 1 in 2000 individuals. Currently more than 7000 rare diseases have been documented, and most are thought to be of genetic origin. Rare diseases primarily affect children, and congenital craniofacial syndromes and disorders constitute a significant proportion of rare diseases, with over 700 having been described to date. Modeling craniofacial disorders in animal models has been instrumental in uncovering the etiology and pathogenesis of numerous conditions and in some cases has even led to potential therapeutic avenues for their prevention. In this chapter, we focus primarily on two general classes of rare disorders, ribosomopathies and ciliopathies, and the surprising finding that the disruption of fundamental, global processes can result in tissue-specific craniofacial defects. In addition, we discuss recent advances in understanding the pathogenesis of an extremely rare and specific craniofacial condition known as syngnathia, based on the first mouse models for this condition. Approximately 1% of all babies are born with a minor or major developmental anomaly, and individuals suffering from rare diseases deserve the same quality of treatment and care and attention to their disease as other patients.",
keywords = "Cilia, Ciliopathy, Craniofacial, Foxc1, Neural crest cells, Ribosome biogenesis, Ribosomopathy, Syngnathia, Tcof1",
author = "Annita Achilleos and Trainor, {Paul A.}",
note = "Funding Information: We are indebted to Mark Miller for artistic illustrations in Figs. 1, 2, and 5 , and Dr Kimberly Inman for images of wild-type and Foxc1 −/− embryos in Fig. 4 . We are also very grateful to the Children's Craniofacial Association for providing Fig. 3 A. Research in the Trainor laboratory is supported by the Stowers Institute for Medical Research and the National Institute for Dental and Craniofacial Research (DE 016082). Publisher Copyright: {\textcopyright} 2015 Elsevier Inc.",
year = "2015",
doi = "10.1016/bs.ctdb.2015.07.011",
language = "English",
isbn = "9780124081413",
series = "Current Topics in Developmental Biology",
publisher = "Academic Press Inc.",
pages = "413--458",
editor = "Yang Chai",
booktitle = "Craniofacial Development, 2015",
address = "United States",
}