Treacher Collins syndrome

What happens in this disease?

In the womb, the development of the facial bones is disturbed. The cheekbones, lower jaw, ears and eyelids are affected most. Symptoms range from so mild they go unnoticed to severe. Intelligence is usually normal.

Which symptoms can occur?

Symptoms differ greatly from person to person.

• Small cheekbones and a small lower jaw (in most)
• Downward-slanting eyes, sparse eyelashes and a notch in the lower eyelid
• Small, missing or differently shaped ears
• Hearing loss (in about half)
• Cleft palate (sometimes)
• In severe cases, narrowing of the airway
• Feeding difficulties (sometimes)

How is it diagnosed?

The diagnosis is made with an examination and imaging of the facial bones. A genetic test confirms the diagnosis. If a change is known in the family, testing before birth can be done.

Treatment and care

There is no treatment that cures the disease completely, but a lot can be done. Operations are done for cleft palate and for the jaw, face and ears. Hearing aids and speech therapy support language. The airway and feeding are monitored closely. Regular hearing, eye and dental checks are important. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

In most families it is passed on through dominant inheritance. For each child of an affected parent, the chance of passing it on is 1 in 2. About 60 percent of these cases start with a new gene change. A rare type is recessive; for a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. Genetic counselling is recommended.