title: The congenital cranial dysinnervation disorders.
abstract: Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius 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.
authors: Department of Neurology, Royal Devon and Exeter Foundation Hospital, Exeter, UK University of Exeter Medical School, Exeter, UK.
authors: N J
authors: NJ
authors: Gutowski
authors: University of Exeter Medical School, Exeter, UK.
authors: J K
authors: JK
authors: Chilton
mesh_terms: D003389:Cranial Nerve Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D004370:Duane Retraction Syndrome / Q000175:diagnosis / Q000235:genetics; D005158:Facial Paralysis / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D005355:Fibrosis; D005801:Genes, Homeobox / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D020331:Mobius Syndrome / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D009801:Oculomotor Muscles / Q000473:pathology
keywords: Genetics; Neurodevelopment; Neurology; Neuromuscular; Ophthalmology