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.