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
Morning glory syndrome
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
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