Treacher Collins Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Treacher-Collins syndrome is a medical condition that is actually rare. Allegedly, this syndrome is related to genetic mutations. This disorder affects the growth of bones and other tissues in the face, causing deformities of the head, face, and ears.
There are many other terms used to describe Treacher-Collins syndrome. Some of them are mandibulofacial dysostosis , Treacher Collins-Franceschetti syndrome, Franceschetti-Zwahlen-Klein syndrome, and zygoauromandibular dysplasia .
This rare condition is found in 1 in every 50,000 live births. Can be found in both women and men with the same ratio.
Symptoms
The symptoms of Treacher Collins syndrome are quite varied, from mild, so that there is almost no abnormality, to more severe symptoms. Symptoms that can be found include:
- On face:
- A special facial appearance with symmetrical abnormalities and found on both sides of the face
- The nose is normal size but looks bigger
- The eyes appear to be drooping, there are no eyelashes
- The cheekbones are depressed inwards
- Abnormalities in the auricle (can be invisible, small, malformed, or rotating), abnormalities in the ossicles that can cause hearing loss
- Can be found cleft lip, absent or small parotid glands
- In the skull: several bones appear hypoplastic, for example frontal, paranasal sinuses, and so on.
- Mental status is generally not impaired, but developmental disturbances may occur mainly as a result of undiagnosed hearing loss.
- Swallowing and eating disorders, hearing disorders, and visual disturbances may be found.
Reason
Treacher-Collins syndrome is caused by a genetic mutation, specifically in the TCOF1 gene (in 81-93% of cases), POLR1C, and POLR1D. Protein production from these various genes plays an important role in the formation of bones and other tissues in the face. This gene mutation causes cell death associated with the formation of bones and tissues in the face.
Conditions caused by mutations in the TCOF1 and POLR1D genes can be inherited in an autosomal dominant manner. This means that only one copy of the mutated gene can cause this condition.
However, in about 60 percent of cases, there is a new mutation in the gene, with no family history of the disorder. If the condition is caused by a mutation in the POLR1C gene, it is generally inherited in an autosomal recessive manner. That is, it takes two copies of the gene to be mutated to give rise to this condition.
Diagnosis
In cases with severe abnormalities on the face, the condition can be detected during an ultrasound examination (USG) at a pregnancy check-up. After the baby is born, doctors can diagnose Treacher Collins syndrome by considering the various abnormalities that appear and are supported by supporting examinations.
One of the supporting examinations that is often used is an imaging examination of the face and head. Generally using X-rays or CT scans. In addition, genetic tests can be carried out to confirm the occurrence of mutations in three genes that are known to cause this syndrome.
Treatment
Treatment for people with Treacher-Collins syndrome requires collaboration in various scientific fields. This is mainly because the symptoms can affect multiple organ systems.
In patients with severe symptoms, treatment is prioritized to free the airway so that the patient can breathe properly. In those who have difficulty swallowing, tube feeding may be considered, to ensure adequate nutrition and hydration. Hearing loss can be treated by giving hearing aids and doing speech therapy.
In addition, surgery can be considered to correct various anatomical abnormalities in the face and head of people with Treacher-Collins syndrome. Oftentimes, surgery is done in stages in certain parts. The surgery performed must also consider the patient’s age. For example, corrections to the mouth are often recommended at 1–2 years of age, corrections to the cheeks, jaw, and eyes are recommended at 5–7 years of age, while ear corrections are recommended after 6 years, and so on.
Prevention
Because it is a form of genetic disorder, this condition cannot be prevented by certain measures.