Treacher Collins Syndrome Causes, Symptoms, Diagnosis and Treatment

What is Treacher Collins Syndrome?

Treacher Collins Syndrome is a condition in which the cheek-bones and jawbones are underdeveloped. Children with this condition have very small or partially absent cheek bones and notches in or stretching of the lower eyelids. The ears are frequently abnormal and part of the outer ear is usually absent. Hearing loss is also associated with this syndrome.

Causes of Treacher Collins Syndrome

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited).
This condition may vary in severity from generation to generation and from person to person.

Symptoms of Treacher Collins Syndrome

Symptoms of Treacher Collins syndrome can be mild or severe. It usually affects the cheekbones, jaws, eyes and ears. Your child may look different and may have problems with breathing, chewing, seeing, hearing or speaking.

Most children with Treacher Collins syndrome have:

A very small lower jaw and chin (micrognathia)
A very small upper jaw (maxillary hypoplasia)
Undersized cheekbones
Ears that are very small (microtia), unusually formed or missing
Eyes that slant downward
A notch in their lower eyelids (coloboma)
Some children with Treacher Collins syndrome also have:

Hearing loss caused by problems with the ear canal or the 3 bones in the middle ear that transmit sound. At least half of children with Treacher Collins syndrome have hearing problems.

An opening in the roof of their mouth (cleft palate).
An airway that is so small it causes serious breathing problems.
People with Treacher Collins syndrome usually have normal cognitive development.

Diagnosis of Treacher Collins Syndrome

Tests used to diagnose Treacher Collins syndrome may include:

Physical examination
Medical history
Genetic testing – this is often not necessary as the diagnosis can be made easily on clinical features alone.

Treatment of Treacher Collins Syndrome

Treatment depends on the severity of the condition, but may include:

Genetic counselling – for the individual or the whole family, depending on whether the condition was inherited or not
Hearing aids – usually helpful in the case of conductive hearing loss
Dental work – including orthodontic work to help correct the child’s malocclusion (‘bad bite’)
Speech therapy – to improve the child’s communication skills. Speech pathologists also work with people who have trouble swallowing food or drink
Surgery – a number of operations are available that can improve function and appearance.

Surgery for Treacher Collins syndrome:

Depending on the severity of the defects, surgical options may include: