title: Congenital cranial dysinnervation disorders: a concept in evolution.
abstract: OBJECTIVE
  We review the congenital and genetic diagnoses that are currently included in the congenital cranial dysinnervation disorders (CCDDs).
  
  
  RESULTS
  Recent literature contains new genotypic and phenotypic descriptions of Duane retraction syndrome, Moebius syndrome, and other CCDDs. New genes which when mutated can result in CCDD have been identified, permitting a better understanding of associated phenotypes. More information is available regarding neurodevelopmental and clinical effects of various gene mutations associated with individual CCDDs. For certain CCDDs, the phenotype of a particular individual may not completely predict the genotype, and conversely, the genotype may not always predict the phenotype.
  
  
  CONCLUSIONS
  The CCDD concept has focused attention on specific congenital disturbances of human ocular motility and on the fact that these disorders are typically neurogenic in origin. The past decade has seen rapid evolution within this field with the last 2 years yielding additional information about existing diagnoses, genes, and phenotypes that may result in better classification of these disorders and new genotype-phenotype correlations in the future.
authors.affiliation: Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. tmbosley@gmail.com
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Bosley
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Darren T
authors.initials: DT
authors.lastname: Oystreck
mesh_terms: D003391:Cranial Nerves / Q000002:abnormalities*; D004370:Duane Retraction Syndrome / Q000235:genetics; D005355:Fibrosis / Q000151:congenital / Q000235:genetics; D006801:Humans; D020331:Mobius Syndrome / Q000235:genetics; D015835:Ocular Motility Disorders / Q000151:congenital / Q000235:genetics; D009801:Oculomotor Muscles / Q000294:innervation* / Q000473:pathology; D000093922:Congenital Cranial Dysinnervation Disorders