This is a rare familial disorder with most reported cases found in an isolated Manitoba Indian population. Many of the clinical features have not been completely described due to the limited number of patients available.
There is often a notch in the upper eyelids and the eyes appear abnormally far apart. The tear drainage duct is often blocked. One patient had an abnormally small eye (appeared to be absent) and another had a cloudy cornea. The anterior scalp hairline is often abnormally low, sometimes extending to the eyebrow. The tip of the nose is broad and often has a groove. The anus may be closed or abnormally placed.
The genetics of this disorder has not been fully described and no responsible mutation has been identified. It is assumed to be inherited in autosomal recessive fashion because of the isolated population in which it has been found. In addition, both sexes are affected and no parent to offspring transmission has been noted.
The diagnosis is most likely made by pediatricians and ophthalmologists. No information is available on longevity or treatment.