These three syndromes are genetic conditions that affect the development of the lower eyelids, cheeks, ears and jaw. Although the conditions are very similar, individuals affected by Miller and Nager syndromes will have deformities of the hands and feet in addition to facial abnormalities.

Symptoms

Treacher Collins, Miller and Nager Syndromes result in deformities of the face that affect facial development but do not cause differences in intelligence. Affected individuals may have:

  • A cleft in the lower eyelid called a coloboma
  • Small or no cheek bones
  • Small or no ears (microtia)
  • A steeper upper jaw angle and smaller lower jaw

The deformity of the jaw may cause issues in breathing sleep apnea, or Pierre Robin sequence.

Individuals with Nager syndrome will have deformities of the hands and feet, such as small or absent thumbs, while patients with Miller syndrome may have abnormalities of the last finger of the hand or fusion of the finger (syndactyly).

Diagnosis

These conditions can be diagnosed upon a physical evaluation of the face at birth, and Miller and Nager syndrome can be diagnosed if abnormalities to the feet and hands are also present.

Treatment

Children with any of these three syndromes require treatment by a team of specialists, which may include a pediatric plastic surgeon, a pediatric ophthalmologist, a pediatric ENT specialist, a pediatrician, a geneticist, a pediatric dentist, an orthodontist, an audiologist and a speech therapist.

Surgery is available to treat facial deformities, close clefts in the eyelids and reconstruct ears and cheek bones. If your child develops sleep apnea, a sleep study may be recommended. If your child’s hearing is impaired, hearing aids may be recommended, as well as audiology therapy. Those affected by Miller and Nager syndromes will be treated by a hand specialist to address hand and feet deformities. Timing of surgical treatment is based on your child’s individual needs and can vary from early in life to 10 years of age and often requires more than one procedure.

The team at the North Carolina Cleft and Craniofacial Center can provide many of these treatment options. Our specialists will help to create a treatment plan that is right for your child and continue care through reconstruction, surgery, therapy and future checkups.