Overview

If you are looking for clear information on the surgical options for treating Treacher Collins syndrome, you have come to the right place. This article will walk you through the different types of surgeries available and how they are used to correct specific features affected by the condition, so you can better understand what to expect at each stage of care. 

What is treacher-collins syndrome?

Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome, is a rare genetic disorder that causes improper development.^1,2

This occurs when there is an incomplete or abnormal development of the hard and soft tissues of the first and second branchial arches. These structures help during embryonic development to ‘build’ the oropharynx, face and neck in the womb before a baby is born.³

The first branchial arch (Meckel’s cartilage) plays a big role in the development of the face and is where the future mandible (lower jaw), malleus and incus bones will form.³

The second arch produces other structures like the styloid process, the stylohyoid ligament, the superior hyoid body and the stapes bone.³

What causes treacher-collins syndrome?

TCS is caused by a genetic mutation. There are different genetic variants which lead to the 4 subtypes of TCS: Treacher Collins syndrome 1 (TCS1), Treacher Collins syndrome 2 (TCS2), Treacher Collins syndrome 3 (TCS3) and Treacher Collins syndrome 4 (TCS4).^1,2

TCS1 is caused by variants in the TCOF1 gene, which is the main gene variant associated with TCS.¹ TCS2 is caused by a variance or mutation in the POLR1D gene.¹ TCS3 is caused by variants in the POLR1C gene.¹ TCS4 is caused by a variance in the POLR1B gene.¹

What are the symptoms of TCS?

TCS causes symptoms such as:²

• Down-slanting eyes
• Hearing loss
• Cleft palate
• Airway problems
• Underdeveloped facial bones
• Vision loss
• Speech impediment
• Microtia

Treatment

The importance of surgical intervention

Surgical intervention is very important for TCS patients as it improves patient function, appearance and psychological health, which can help patients lead as much of a ‘normal’ and happy life as possible.

Diagnosis and surgical planning

Patients with TCS have a typical appearance, so specific testing is not always required. Scans such as MRIs and X-rays are done to monitor the development of bone growth to determine what surgeries are required and how the bone grows after treatment.³

Scans can also be done for hearing loss to examine the exact cause to help choose the required treatment.⁴

If a patient needs multiple surgeries, planning them together is important, even if they are separate procedures, because the outcome of one surgery can affect the other. For an effective treatment, a plan must be put into place before taking action.

The life stages of surgical intervention

There are 4 main stages of life when surgery is done: phase I, phase II, phase III and phase IV.^2,4

Phase I

This is the phase immediately postnatal, which is straight after birth. This phase is for urgent medical needs, usually when there is a problem with the airways and breathing. In this phase, the babies are intubated. Lower eyelids are often underdeveloped in TCS, leaving the eyes more exposed. Thus, doctors may temporarily tape them shut to protect against injury and dryness. 

Phase II

Phase II (up to 4 years old) is the infancy stage, when the breathing airway is controlled. The cleft palate is repaired if it does not support airway needs, and hearing aids are used if needed.

Phase III

Phase III (4-16 years) is when ear reconstruction is done and bone-anchored hearing aids are placed.

Phase IV

Phase IV (16 years+) is when the hard and soft tissues are reconstructed through mature facial skeleton surgery for hard tissue and facial lifts for soft tissue.

Key surgical procedures for TCS

Cleft palate repair

During phase II, the cleft palate (a gap or split in the roof of the mouth) is repaired through surgery at around 6 to 12 months, 18 at the latest, as it can cause several problems.^2,8 This can include difficulty feeding, hearing problems, being more vulnerable to ear infections, and speech problems if the cleft palate is left untreated.^2,8

The surgery can improve palatal movement and isolate the mouth from the nose. The cleft palate can vary in size depending on the individual. If the cleft palate is on the wider side, then the surgery is conducted when the patient is older.^2,8

Ear reconstruction and hearing restoration

Inner ear

For TCS hearing loss, some steps can be taken to improve hearing loss in both mild and severe cases.⁴

Bone-anchored hearing aids are implants attached to the temporal bone. These are used in phase II, for children around 4 years old, because the temporal bone must be thick enough by then. The bone-anchored hearing aid works by picking up sounds and vibrating the bones near your ear to send the sound to the inner ear.⁴

For children under 4 years old, non-surgical procedures such as early banded hearing aids are used.⁴

External ear

Patients with TCS may have microtia, which is a deformed outer ear, so ear surgery is done on the pinna, which is the outside of the ear, to correct this.^2,4

There are different severities of microtia. It is a common symptom of TCS and can be corrected through surgery. This is normally done in phase III in children around 9 years of age, as the patient should be able to cooperate.

In some cases, prosthetic ears may also be used.

Orbital and eyelid reconstruction

Eyelid reconstruction is a surgery where the upper and lower eyelids are reconstructed, using an ‘orbital flap’, which is a piece of skin from a donor site which is similar to eyelid skin.

Orbital reconstruction is when the eye socket (the structures around the eyeball) is reconstructed with a flap from a donor site that has enough fat attached to it.^5,7

These surgeries are designed to improve both the function of the eyes, such as improving eyesight and proper eyelid closure to protect the eyes from dirt and dryness, as well as improving the aesthetic look of the eyes. These surgeries are done in phase III for children around 5-7 years old, if needed.²

Zygomatic and malar augmentation (orthognathic)

The zygomatic arch and the malar midface are parts of the middle of the face which, through a surgical procedure, are changed to make the face more aesthetically pleasing and ‘normal’.⁶ It is an orthognathic surgery, which is a group of surgeries done to fix the structure of the jaw and face.

Zygomatic and malar augmentation is the procedure where bone implants, often from the skull, are used in the cheek to give the face a better definition and to make the cheeks more prominent.^5,6 This surgery is used to correct the typical facial profiles common in TCS and is normally done in phase IV.^9,11

Mandibular reconstruction (orthognathic)

TCS patients with a short mandible (lower jawbone) and midface, which is mostly exaggerated in girls, can undergo mandibular reconstruction. This is a surgery of the mandible to correct and ‘lengthen’ it using bone from a donor site such as the rib.¹⁰ This improves patients' ability to chew as well as improves patients’ mental health, as facial aesthetics are improved.² This surgery is done in phase IV on a mature facial skeleton.²

The mandible must be reconstructed before the ear, as it can influence how the pinna is rebuilt.² This is why detailed surgical planning and consulting are important.

Soft tissue reconstruction and aesthetic refinements

Rhinoplasty

A rhinoplasty is a surgery on the nose, done after orthognathic treatments. This surgery is done to improve the facial aesthetics and is performed depending on the patient’s wants and needs.²

Fat grafting

Fat grafting, otherwise known as lipofilling, is when fat is taken from another part of the body and is put into the face for aesthetic purposes.

These treatments are done in phase IV as the final restorative treatments and can improve patient mental health.⁴

Summary

The surgical management of Treacher Collins syndrome (TCS) is used to address cranial deformities caused by genetic mutations related to TCS. These cranial deformities can range from hearing loss to cleft palate, all of which can be fixed/improved with surgical procedures, including cleft palate repair, ear reconstruction and hearing restoration, orbital and eyelid reconstruction, zygomatic and malar augmentation, mandibular reconstruction, soft tissue reconstruction and refinements. 

Surgery is typically planned in four key phases across childhood and adolescence, with the timing and type of procedures carefully tailored to each patient. Diagnosis and surgical planning are important, as most TCS patients require multiple surgeries, all of which can impact each other. When a surgical treatment plan is completed, the patient’s quality of life will most likely have drastically improved, both functionally and aesthetically. This is the goal for surgical treatments, allowing the patient to become more self-sufficient and self-confident. With the right care and support, individuals with TCS can grow into their fullest potential.