The congenital cranial dysinnervation disorders
Author
Gutowski, Nicholas J.
Chilton, J. K.
Date
2015-07-01Journal
Archives of disease in childhoodType
Journal ArticleReview
Publisher
BMJDOI
10.1136/archdischild-2014-307035Metadata
Show full item recordAbstract
Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Mobius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance.