The congenital cranial dysinnervation disorders

Arch Dis Child. 2015 Jul;100(7):678-81. doi: 10.1136/archdischild-2014-307035. Epub 2015 Jan 29.


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.

Keywords: Genetics; Neurodevelopment; Neurology; Neuromuscular; Ophthalmology.

Publication types

  • Review

MeSH terms

  • Cranial Nerve Diseases / congenital*
  • Cranial Nerve Diseases / diagnosis
  • Cranial Nerve Diseases / genetics
  • Duane Retraction Syndrome / diagnosis
  • Duane Retraction Syndrome / genetics
  • Facial Paralysis / congenital
  • Facial Paralysis / diagnosis
  • Facial Paralysis / genetics
  • Fibrosis
  • Genes, Homeobox / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Mobius Syndrome / diagnosis
  • Mobius Syndrome / genetics
  • Mutation
  • Oculomotor Muscles / pathology

Supplementary concepts

  • Facial paresis, hereditary, congenital