External Symptoms

There are many external symptoms that can occur due to CES. The most obvious one is the shape of the pupil; to be more specific the hypertelorism, down-slanting papebral in one or two eyes or total/partial inferior Coloboma of iris choroid and retina. Of those that have this syndrome a minority are microcephalic, which is a small head and undeveloped brain (internal). Less than 50% of patients show growth retardation. Patients with this syndrome can exhibit preauricular, ears with pits, tags, or both (which is most common). They also have absent canals causing severe hearing loss and they can have sensorineural hearing loss which can be severe or mild. These are a few of the external symptoms resulting from CES (Gorlin, Cohen, & Hennekarn, 2001).