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.

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.

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.