Treacher Collins syndrome, also called mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome, is a rare genetic disorder that causes the facial bones and tissues to develop abnormally.
What are the symptoms of Treacher Collins syndrome?
In general, a child may have underdeveloped or absent cheekbones, an underdeveloped or smaller-than-normal jaw bone, underdeveloped or malformed ears, and small or obstructed nasal passages. They often have an unusually large mouth and a large beak-like nose. A cleft palate is also common. Other symptoms can include misaligned teeth, eyes that slant downward, sparse eyelashes and a notch in the lower eyelids, called a coloboma.
What complications can occur?
Treacher Collins syndrome can lead to other health complications, such as:
Breathing problems: In severe cases, underdeveloped facial structures, such as a small jaw and airway, may make breathing difficult. Breathing may be difficult at all times or just during sleep, leading to a condition called sleep apnea. Sleep apnea is a serious condition that occurs when an individual stops breathing for short periods of time during sleep. If left untreated, breathing problems may limit a person’s daily activities, as well as put strain the cardiovascular system and increase blood pressure.
Eye infection and vision loss: If a child has a notch in the lower eyelids, it may cause the eyes to dry out easily, increasing the risk of infection. Some people may also experience vision loss as a result of eye abnormalities.
Eating difficulty: Some children may have difficulty eating, especially those with a cleft palate.
Hearing loss: About half of people with Treacher Collins syndrome experience hearing loss, which ranges from mild to severe, as a result of defects in the middle ear. In most cases, hearing loss is not severe enough to be termed deafness.
Speech problems: Children with Treacher Collins syndrome may have speech problems. This can be due to their cleft palate, hearing loss or both.
How is Treacher Collins syndrome treated?
There is no cure for Treacher Collins syndrome. However, most people with the disorder are able to function normally and have normal intelligence.
Some patients require reconstructive surgery to improve their facial appearance. Children usually undergo several surgeries between age five and adolescence. For instance, the first surgery is often done to correct the eyelid coloboma in the first years of life. Surgery to correct depressed cheekbones is usually performed before the child is five years old, and the ears are usually reconstructed when the child is about six years old. Surgery to lengthen the lower jaw may begin when the child is in elementary school and may be completed when the child is in late adolescence or early adulthood. Sleep apnea may also need to be treated with surgery. During this surgery, the extra tissue from the throat or nose that is blocking the airway is removed.
Additional treatments include hearing aids, speech-language therapy, breathing tube (tracheostomy), dental devices and a CPAP (continuous positive airway pressure) machine.