Treacher Collins
What is Treacher Collins?
Treacher Collins Syndrome is a rare genetic disorder that affects the growth and development of bone and other tissues of the face. It is characterized by distinctive craniofacial abnormalities, which can lead to different types of difficulties. The symptoms of Treacher Collins syndrome are present when the baby is born. The problems associated with this syndrome can range in severity from mild to very severe. There is no cure for Treacher Collins syndrome, but craniofacial surgery can improve speech and improv some of the more severe craniofacial anomalies.
Symptoms of Treacher Collins
The specific symptoms and physical characteristics associated with Treacher Collins Syndrome can vary from one individual to another. Craniofacial abnormalities can include:
- Absent floor of the eye sockets and lower eyelashes
- Cleft palate
- Conductive hearing loss or deafness
- Disproportionately large mouth
- Deformities of the ear canal
- Droopy misshaped eyes with notched lower lids
- Large and pointed nose
- Low-set, misshapen, small, or absent ears
- Overgrowth of scalp hair onto cheeks
- Small jawbone
- Small or absent cheekbones
Complications depend on the severity of the condition, but may lead to the following:
- Breathing: a small jaw and average-sized tongue can interfere with breathing and lead to sleep apnea
- Dry eye syndrome: may occur when there are not enough tears to keep the eyes moist and comfortable and can lead to recurrent eye infections
- Feeding: a cleft palate can prevent the baby from suckling and swallowing
- Learning: may be affected by hearing loss or deafness, but does not affect a child’s intelligence
- Psychological: may include low self-esteem and depression caused by social stigma
- Speech: may be caused by cleft palate and/or conductive hearing loss
Testing & Diagnosis
The diagnosis of Treacher Collins syndrome may include:
- Genetic testing
- Medical history
- Physical examination
Treatment Options
Treatment depends on the severity of the condition, but may include:
- Dental work
- Hearing aids
- Genetic counseling
- Speech therapy
- Surgery
Counterclockwise Craniofacial Rotation Osteotomy
A Counterclockwise Craniofacial Rotation Osteotomy procedure, sometimes known as counterclockwise craniofacial rotation osteogenesis (C3DO), is performed to improve airway flow and jaw position mainly in children or adults with Treacher Collins or other craniofacial syndromes. Many of these patients have a breathing tube inserted into their windpipe (tracheostomy) and have it in place for many years. The new procedure’s goal is to successfully remove the tube (also known as a trach). The procedure has seen improved results than the traditional treatment because it combines two separate procedures: mandible distraction and Le Fort II nasomaxillary advancement. Surgeons separate both jaws from the scull, attach a U-shaped headframe, and attach a metal distractor to be adjusted at home. This combined surgery helps open the patient’s airway. Craniofacial rotation osteotomy is a full-day operation. With removal patients may also see an improvement in facial features.
UI Health’s expert craniofacial surgeons performed one of the first successful Craniofacial Rotation Osteotomy procedures in the Midwest.
