This facial malformation syndrome is named for Edward Treacher Collins, an English ophthalmologist, and Adolphe Franceschetti, a Swiss ophthalmologist, who described the essential clinical features.
The characteristic facial features are usually, although not always, evident at birth. There may be a notch in the upper eyelid and the lashes are often missing. The lid opening often slants downward, in some cases severely. The midface below the eyes usually appears flat. The jaw (mandible) is short but the mouth opening is large. Difficulties in swallowing, speech, and breathing can be significant. A cleft palate is present in many patients. Hearing is often impaired since the bones of the middle ear are malformed or even absent. The external ear is often set low and may be malformed with a 'crumpled' appearance. Sometimes a skin tag is present in front of the ear and there may be an abnormal opening present in the same region. The external ear canal is often malformed and may even be missing. Intelligence is normal although mental development can be delayed if the hearing loss is not corrected. The hairline is often low, extending to the cheek bones.
This is an autosomal dominant disorder which, in familial cases, results in a vertical pattern of transmission. A significant number of cases (60%) result from new mutations and have no family history of the disease. Affected parents have a 50% risk of passing the disorder to each child. Like most heritable disorders, there is a wide range in the severity of symptoms among affected individuals.
The diagnosis is often made in newborns by pediatricians. Reconstructive facial surgery may be necessary in severe cases for cosmesis and to facilitate breathing and eating. The notch in the eyelid should be repaired to prevent drying of the cornea. Lifespan is normal. It is important to test hearing early to allow normal intellectual development.