What are Treacher Collins syndrome, Nager syndrome and Miller syndrome?

These three conditions are genetic syndromes that affect the development of the lower eyelids, cheeks, ears, and jaws. The three conditions are very similar, but patients will Nager and Miller syndrome have abnormalities of the hands and extremities in addition to their facial differences. Nager syndrome patients classically have small or absent thumbs, while patients with Miller syndrome have abnormalities of the small finger of the hand or syndactyly where the fingers are fused together.

What causes Treacher Collins syndrome, Nager syndrome and Miller syndrome?

Genes that cause Treacher Collins and Miller syndromes have been identified by geneticists. These conditions can be inherited. Treacher Collins syndrome can be passed along in either an autosomal dominant (one abnormal gene is needed to cause the condition) or recessive (two abnormal genes are needed to cause the condition) manner depending on which gene is affected. Most cases of Treacher Collins syndrome occur sporadically when a new mutation occurs and no one else in the family has previously been affected. Miller syndrome is inherited in a recessive pattern. The gene that causes Nager syndrome has not been identified. It can be inherited, but most cases are sporadic.

What are the symptoms of Treacher Collins syndrome, Nager syndrome and Miller syndrome?

All three of these conditions affect the development of the patient’s face, but do not alter their intelligence. Patients may have a hole or cleft in the lower eyelid, called a coloboma. They typically have weak or absent cheek bones. Patients may have a condition called microtia which causes them to have small or absent ears. Patients have a steep upper jaw angle and as a result have a small lower jaw. This jaw deformity can cause airway obstruction, sleep apnea, and Pierre Robin sequence. Nager and Miller syndrome also have abnormalities of their hands and limbs.

How are patients with Treacher Collins syndrome, Nager syndrome and Miller syndrome evaluated?

Patients with Treacher Collins syndrome, Nager syndrome, and Miller syndrome require evaluation by a team of specialists including a pediatric plastic surgeon, a pediatric ophthalmologist, a pediatric ENT specialist, a pediatrician, a geneticist, a pediatric dentist, an orthodontists, an audiologist, and a speech therapist.

Your surgeons will likely order imaging studies to examine the bones of the skull when it is appropriate timing to consider surgery. These studies will likely include a CT scan. Eye exams are important to look for signs of dryness, irritation, or eye injury in patients with significant eyelid deformities, called colobomas. If you child develops symptoms of sleep apnea or Pierre Robin sequence, the doctors will likely have an overnight sleep study or polysomnogram to measure the disorder. Audiology testing and evaluation by an ENT specialist are important to ensure your child is hearing well. Patients typically use hearing aids to hear. Patients with Nager and Miller syndromes will also be evaluated by a hand specialist to determine what procedures are needed to correct their hand conditions.

How are patients with Treacher Collins syndrome, Nager syndrome and Miller syndrome treated?

Patients with these conditions often require surgery to correct the deformity of their lower eyelids, reconstruct their cheek bones, fat grafts to add volume to their face, reconstruct their ears, and orthognathic surgery to correct the dental occlusion and facial proportions. The timing of these procedures is determined by the severity of each deformity and how significantly each is impacting your child’s health. 

Patients with significant airway problems or Pierre Robin sequence early in life may require mandibular distraction to address this problem. The condition of small or absent ears called Microtia is typically treated between eight and ten years old. Ears may be created from their own tissue using cartilage taken from their ribs. The occlusion of their teeth and facial proportions are corrected when they are done growing using orthognathic surgery. Eyelid surgery may be completed in early child hood, and will be carried out sooner in patients with significant eye problems when they are seen by our pediatric ophthalmologists. Patients without cheek bones may have surgery to create these around 8 years old.