Treacher Collins syndrome is a genetic disorder that causes impaired growth of bones and tissues in the face. Children with Treacher Collins syndrome can experience a variety of symptoms, ranging from less eyebrow hair, incomplete or absent ear growth, to a smaller jaw and chin.
Treacher Collins syndrome is caused by certain genetic changes or mutations. Treacher Collins syndrome has several other names or names, namely: Mandibulofacial dysostosis (MFD1), zygoauromandibular dysplasia, and the Franceschetti-Zwahlen-Klein syndrome.
Causes of Treacher Collins Syndrome
Treacher Collins syndrome results from a genetic abnormality in the TCOF1, POLR1D, or POLR1C genes. These three genes play an important role in the development of bone tissue and facial muscles.
When there is a change or mutation in one of these genes, there will be cell and bone tissue and muscle death that is too fast. As a result, complaints and symptoms will appear on the bones and face.
Treacher Collins syndrome is a rare condition. This condition only occurs in 1:50,000 births. About 40% of these conditions are inherited from parents.
Symptoms of Treacher Collins Syndrome
Symptoms of Treacher Collins syndrome can vary and vary from person to person. Symptoms can be so mild that they go unnoticed, to so severe that they cause significant facial deformities. Some of the symptoms that can arise when someone has Treacher Collins syndrome are:
- Abnormalities in the eyes, such as the position of the eyes that look tilted downwards, small eye size, crossed eyes, the presence of indentations in the eyelids (coloboma), eyelashes are few in number, to blindness
- Facial abnormalities, such as a nose that looks bigger due to a smaller face or cheeks that look sunken
- Ear abnormalities, such as small earlobe microtia, abnormally shaped, not formed, which can be accompanied by hearing loss
- Abnormalities in the mouth, such as a cleft or cleft that can occur in the lips or palate
In severe conditions, abnormalities in the facial bones and muscles can cause people with Treacher Collins syndrome to experience dry eye syndrome, sleep disorders, swallowing, and even breathing problems that can be dangerous.
When to go to the doctor
Doctors will immediately provide treatment if they see a newborn with a number of symptoms mentioned above. Treatment will be adjusted to the severity experienced by the baby.
Diagnosis of Treacher Collins Syndrome
Treacher Collins syndrome can be detected from the time the fetus is conceived or when the baby is born. Usually Treacher Collins syndrome will be diagnosed through direct examination, molecular genetic tests, and scans.
Molecular genetic test
This test aims to detect mutations in the gene that causes Treacher Collins syndrome. A genetic test will usually be done if the baby has two or more of the symptoms of Treacher Collins syndrome, such as a cleft palate and a very small jaw. The TCOF1 gene is the gene most frequently detected with mutations in 81% of patients with Treacher Collins syndrome.
Scan
Ultrasound, X-ray, CT Scan, or MRI are some of the types of scans that can be performed on people with Treacher Collins syndrome.
Ultrasound is usually done during the second trimester of pregnancy to detect fetal facial abnormalities. Meanwhile, scans with X-rays, CT scans, and MRIs can be done to map the condition of the baby's facial bones and muscles after birth.
This scan is done to help doctors to plan the process of repairing the structure and shape of the face later.
Treacher Collins Syndrome Treatment
Until now, there is no treatment that can cure Treacher Collins syndrome. Treatment is more aimed at improving the structure of the bones and facial muscles, thereby preventing complications that can arise. This can be done with surgery. There are several types of operations that can be performed, namely:
- Tracheostomy, to make a hole in the neck as direct access to the respiratory tract if the sufferer has difficulty breathing
- Lip surgery, to repair cleft lip and cleft palate
- Facial bone reconstruction surgery, to correct the shape of the jaw and other bones in the face.
- Eyelid surgery, to correct imperfect eyelid shape
- Ear reconstructive surgery, to repair the structure of the ear
In addition, the use of hearing aids and speech therapy can be done to help people with Treacher Collins syndrome who have hearing problems or have difficulty communicating.
Currently, research on stem cell therapy is being developed to treat Treacher Collins syndrome. Stem cell therapy is thought to trigger tissue growth.
Children with Treacher Collins syndrome generally have the same intellectual level and life expectancy as people without this disorder.
However, facial deformities can be a burden for people with Treacher Collins syndrome, especially when socializing with other people. Therefore, in addition to the series of treatments previously mentioned, people with Treacher Collins syndrome also need support from their families and people around them.
Complications of Treacher Collins Syndrome
Patients with Treacher Collins syndrome can experience several conditions and diseases due to disorders of the bones and muscles they experience, namely:
- Difficulty breathing due to deformity of the respiratory tract
- Experience sleep apnea or stop breathing during sleep due to disturbances in the respiratory tract
- Difficulty eating due to cleft lip or cleft palate
- Increased risk of eye infections due to eye deformities that make the eyes dry easily
- Having hearing loss to loss of hearing ability due to abnormalities in the auditory canal and the bones in it
- Speech disorders due to deformity of the chin and mouth or due to deafness
Prevention of Treacher Collins Syndrome
Treacher Collins syndrome is a genetic disorder that is difficult to prevent. However, if you or your partner have a family history of Treacher Collin syndrome, it's best to have a genetic screening and consultation before planning a pregnancy.
In addition, to ensure the health and development of the fetus, pregnant women are also advised to routinely carry out prenatal checkups according to a predetermined schedule.