Congenital cranial dysinnervation disorders (CCDD): classification

Evidence-based neurology checklist on congenital cranial dysinnervation disorders (ccdd): classification: Types Möbius syndrome Duane retraction syndrome (DRS) Congenital fibrosis of the external ocular muscles (CFEOM) Congenital ptosis associated with adduction Hereditary congenital facial…

Types

  • Möbius syndrome
  • Duane retraction syndrome (DRS)
  • Congenital fibrosis of the external ocular muscles (CFEOM)
  • Congenital ptosis associated with adduction
  • Hereditary congenital facial paresis
  • Monocular elevation deficiency (MED)
  • Duane radial ray syndrome
  • Familial horizontal gaze palsy with progressive scoliosis (HGPPS)

References

  1. Gutowski NJ, Chilton JK. The congenital cranial dysinnervation disorders. Arch Dis Child 2015; 100:678-681.
  2. Assaf AA. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) 2011; 25:1251-1261. 
  3. Mendes S, Beselga D, Campos S, et al. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction. Strabismus 2015; 23:33-35.
  4. Alnosair G, Alhashim H, Alhamoud M, Alturki H. Congenital ptosis associated with adduction as a dysinnervation disorder: a report of a rare case. Cureus 2023; 15:e40422. 
  5. Volk AE, Carter O, Fricke J, et al. Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. Mol Vis 2011; 17:1978-1986.

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