Congenital Cranial Dysinnervation Disorders: A Literature Review

• Published in: American orthoptic journal Vol. 67; no. 1; pp. 89 - 92
• Main Author: Fels, Rebecca
• Format: Journal Article
• Language: English
• Published: United States Taylor & Francis 01-01-2017
• Subjects: Bolsey-Salih-Alorainy syndrome; CCDDs; congenital cranial dysinnervation disorder; Cranial Nerves - abnormalities; gene mutations; Genetic Predisposition to Disease; Humans; Möbius syndrome; Ocular Motility Disorders - congenital; Ocular Motility Disorders - genetics; Oculomotor Muscles - innervation; Möbius syndrome; congenital cranial dysinnervation disorder; Bolsey-Salih-Alorainy syndrome; gene mutations; CCDDs
• ISSN: 0065-955X; 1553-4448
• DOI: 10.1080/0065955X.2017.12023638

Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital fibrosis syndrome, it was thought that the primary problem was extraocular muscular maldevelopment. Recent advancements in genetics and neuro-radiology have now determined the initial observation of fibrotic muscles is secondary to a primary lack of innervation from deficient, absent, or misguided cranial nerves. This presentation provides an overview of the known genes and phenotypes currently recognized within the CCDD domain. It will also highlight areas of current research being done in the area of cranial nerve development. Increased knowledge and awareness of these disorders has resulted in more research being conducted. These studies have provided a more complete understanding of efferent motor system development and are leading to improved treatment strategies for patients.