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 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