Oculoauricular syndrome
From Wikipedia, the free encyclopedia
| 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.
Eyes
The clinical features of this condition are as follows:[citation needed]
- 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)[1]
Pathogensis
This is not presently understood.[citation needed]
Diagnosis
Epidemiology
This condition has only been described in three families to date (2017).[citation needed]