Oculoauricular syndrome

Oculoauricular syndrome is a rare genetic condition affecting the eyes and ears. It is due to mutations in the H6 family homeobox 1 (HMX1) gene. It is also known as the Schorderet-Munier-Franceschetti syndrome.

Oculoauricular syndrome
Oculoauricular syndrome is inherited in an autosomal recessive manner.

Signs and symptoms

The clinical features of this condition are as follows:

Eyes

Ears
  • malformed pinnae
  • low-set pinnae
  • crumpled helix
  • narrow external acoustic meatus
  • coloboma of the lobules

Hearing is normal

Genetics

This condition is inherited in an autosomal recessive manner. The gene responsible is located on the short arm of chromosome 4 (4p16.1)[1]

Pathogensis

This is not presently understood.

Diagnosis

Differential diagnosis

This includes

  • Morning glory syndrome

Epidemiology

This condition has only been described in three families to date (2017).

History

This condition was first described in 1945.[2] The gene responsible was identified in 2008.[1]

References
  1. Schorderet, D.F.; Nichini, O.; Boisset, G.; Polok, B.; Tiab, L.; Mayeur, H.; Raji, B; de la Houssaye, G; Abitbol, M.M.; Munier, FL (2008). "Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome". American Journal of Human Genetics. 82 (5): 1178–1184. doi:10.1016/j.ajhg.2008.03.007. PMC 2427260. PMID 18423520.
  2. Franceschetti, A/; Valerio, M. (1945). "Malformations associees des yeux et des oreilles". Confinia Neurologica. 6 (5): 255–257. doi:10.1159/000105978.
Classification
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.