Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Treacher Collins Syndrome

Also called mandibulofacial dysostosis.

What is Treacher Collins Syndrome?

• Treacher Collins syndrome is a genetic disorder which is characterized by disfiguring malformations impacting the chin, cheeks, eyes, and ears
• ​The degree of impact can vary from mild to severe
• Diagnosis is found via x-rays, genetic testing, and the presence of symptoms, which are generally hard to miss.
• The syndrome is named after Edward Treacher Collins, an ophthalmologist and surgeon from England. He first described the syndrome in 1900.

How Do You Get It?

• Treacher Collins syndrome is a genetic disorder and has been attributed to mutations affecting several genes:
  • TCOF1 – by far the most common, around 95 percent of cases
  • POLR1C
  • POLR1D
• The disorder is inherited in an autosomal dominant pattern most of the time. However, in over half of cases, Treacher Collins syndrome appears as a result of a new mutation, not one inherited from parents.
• About 1 in 50,000 births are affected by Treacher Collins syndrome

What Are The Symptoms?

• Symptoms can be so mild that some individuals may never be diagnosed. The primary symptoms, include:
  • Underdevelopment of the lower jaw and zygomatic (cheek) bones
  • Poor teeth occlusion
  • Retracted tongue
    • In severe cases, trouble breathing or swallowing may be present
  • Malformed or even absent external ear
    • Misshapen middle ear bones
    • Most patients suffer hearing loss
  • Various eye problems, such as:
    • Narrowed tear ducts
    • Malformed eyelids
    • Severe dry eyes
    • Eye infections
    • Vision loss
  • Cleft palate
  • Sleep apnea
  • Dental anomalies
• Most patients have normal intelligence and life expectancy
• Mental health problems, such as distress about appearance, anxiety, depression, and social phobias, are common.

How Is It Treated?

• There is no cure for Treacher Collins syndrome. A multidisciplinary medical team is often necessary to manage the disorder.
• Corrective surgeries are the primary method of treatment. Surgeries can include:
  • External ear reconstruction
  • Zygomatic and orbital reconstruction
  • Maxillomandibular reconstruction
  • Nose reconstruction
  • Contour of the facial soft tissues reconstruction
  • Cleft palate repair
• Treatments for hearing loss include hearing aids, speech therapy, and bone conduction amplification
• Orthognathic interventions may be needed for teeth and jaw abnormalities and deformities
• Additional psychiatric and psychological support may be needed to mediate self-image, social, and mental health challenges

Where Can I Learn More???

• Learn more about this disease from the National Organization for Rare Disorders.
• Check out our cornerstone on this disease here.