| Oculoauricular syndrome | |
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| Oculoauricular syndrome is inherited in an autosomal recessive manner. | |
| Specialty | Medical genetics  |
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.
Signs and symptoms
The clinical features of this condition are as follows:
Eyes
- microphthalmia
- coloboma
- nystagmus
- corneal sclerosis
- cataract
- glaucoma
- anterior synechiae
- posterior synechiae
- macular hypoplasia
- rod-cone dystrophy
- divergent strabismus
- posterior embryotoxon
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)
Pathogensis
This is not presently understood.
Diagnosis
Differential diagnosis
This includes
Epidemiology
This condition has only been described in three families to date (2017).
History
This condition was first described in 1945. The gene responsible was identified in 2008.
References
- ^ 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.
- Franceschetti, A/; Valerio, M. (1945). "Malformations associees des yeux et des oreilles". Confinia Neurologica. 6 (5): 255–257. doi:10.1159/000105978.
External links
| Classification | D |
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