Treacher Collins Syndrome is a rare condition causing babies to have facial deformities. The medical condition caused due to genetic mutation can result in having deformed jawbones, cheekbones, eyelids, and ears. It occurs due to the problem faced in the development of bones as well as other tissues of the face. Therefore, people affected by the syndrome usually have abnormalities in the head, face, as well as ears. The deformities can also result in hearing loss. The problem is rare and is known more commonly as TCS. It affects every one child in 50,000 births. It is a problem that has no permanent cure. But, it is possible to get relief with surgeries, assisted devices, and other therapies. Do you wish to know more about the problem? Then, read ahead to get comprehensive information about the genetic disorder.

What Is Treacher Collins Syndrome?

Treacher Collins Syndrome also referred to as TCS is the autosomal dominant, genetic disorder, which occurs mostly due to the mutation of genes like TCOF1, POLR1C, or POLR1D. In most cases, TCOF1 triggers the syndrome. The degree of complication depends on the affected people. So, it can vary from mild to severe. People affected by the syndrome can suffer from complications like:

Vision problems
Cleft palate
Hearing issues
Breathing problems

Children affected by the syndrome show average intelligence levels. it is also known by several other names like:

Treacher Collins-Franceschetti syndrome
Zygoauromandibular dysplasia
Mandibulofacial dysostosis
Franceschetti-Zwahlen-Klein syndrome

Symptoms Associated With Treacher Collins Syndrome

Children born with the syndrome can suffer from mild to severe symptoms. The mild symptoms can go undiagnosed as you cannot notice the changes to the face. In most cases, the symptoms appear on the face due to the direct effect of the problem on facial bones and tissue. Some people can suffer from major physical abnormalities as well as life-threatening complications. The major symptoms pointing towards the problem are:

Missing or small cheekbones
Malformed eyes
Down-slanting eyes
Small upper jaw
Small chin and lower jaw
Defects in the middle ear
Missing, small or out-of-position outer ears
Cleft palate (Opening in the roof of the mouth)
Cleft lip
Blocking in the airways
Hearing problems
Misaligned teeth
Hair displacement causing it to grow in front of the ears as well as to the lateral cheekbones

The symptoms mentioned above can trigger severe complications. So, if you notice such physical deformities, you need to consult the doctor immediately. Your doctor can manage the condition to provide relief to the child.

Complications Due To Treacher Collin Syndrome

Named after a London ophthalmologist, Edward Treacher Collins, the genetic disorder can cause severe complications. The disorder first described in 1900 has characteristics that can put the affected personâ€™s life in danger. Therefore, it is necessary to understand the complications caused due to the symptoms.

Breathing Problems

The genetic mutation can result in the small airway. So, a child can find it difficult to breathe sufficient air. It can cause breathing problems. The serious complication needs immediate medical attention. Else, it can lead to serious complications. In most cases, the issue requires surgical insertion of a breathing tube into the windpipe (trachea) to breathe properly. In mild cases, the breathing tube gets inserted down the throat to offer relief from breathing problems.

Sleep Apnea

The small or blocked airway can result in sleep apnea. It is the problem that can cause your child to stop breathing while they sleep. So, it can cause your child to gasp for air or snore. The problem can have severe consequences like:

Hyperactivity
Growth Delay
Aggression
Attention Deficit
Learning difficulties
Memory problems
Eating Difficulties

The abnormal structure of the mouth can cause feeding difficulties. In most cases, people affected by the syndrome can have an opening in the roof of their mouth or have abnormal roof shape. So, it can make it difficult to eat or drink food. It can result in malnutrition.

Eye Infections

The irregular eyelid shape can cause problems. It can result in eye dryness. So, it can put the child at risk of serious eye infections.

Hearing Loss

The abnormal development of the ear structure can lead to hearing problems. The TCS syndrome can trigger hearing issues to at least 50% of the affected people. It is due to the malformation of the ear canal and tiny bones inside it. The malformed ear structure cannot transmit sound properly. Therefore, it can lead to hearing loss.

Speech Problems

The hearing loss can cause speech problems in children. Children need to listen to new words to learn and talk to people. The hearing loss can cause trouble in learning new words. The abnormal shape of the jaw, as well as the mouth, will make it difficult to communicate verbally. But, it does not mean that it will adversely affect intelligence or language development. Therefore, children can have normal intelligence level.

Cognitive Delay

The child affected by Treacher Collins Syndrome can experience a cognitive delay. Cognition is the process of understanding or acquiring knowledge. A child can learn and understand the surroundings with thoughts, senses, and experiences. When the child experiences cognitive delays, it leads to failure in reaching developmental milestones. At least 5% of the children affected by the rare genetic disorder can experience neurological deficits or developmental delays.

Causes Of Treacher Collins Syndrome

TCS syndrome occurs due to specific gene mutations. It is a genetic condition with no permanent cure. Three main genes are responsible for the disorder. The mutation in one of the following genes can trigger the condition:

TCOF1
POLR1D
POLR1C

Among the three genes, TOF1 Gene causes the majority of TCS cases. Around 80-90% of the people affected by TCS have a TCOF1 gene mutation. While the other two genes, POLR1C or POLR1D causes the genetic disorder in 2-8% of the cases. The rest of the people affected by the Treacher Collins Syndrome have no known cause triggering the problem remain unknown. So, a small minority of people have unidentified mutation triggering the genetic condition. Among the affected people, 40% have either one of the parents with affected genes. In some rare cases, both parents have mutated genes. In such cases, affected people inherit TCS. While the majority (60%) of people develop TCS due to a new mutation. It occurs for the first time during the conception.

People with one or more family members suffering from TCS need to get advice from their doctor before planning a baby. You are more at risk of developing the problem with a family history. Therefore, you need a prenatal consultation to detect the probability of having a baby with TCS.

Function Of Specific Genes In Developing Treacher Collins Syndrome

The three genes, TCOF1, POLR1C, and POLR1D play an important role in your facial bones and tissue development. So, during the early development of the fetus, the mutated genes can self-destruct. It results in the incomplete development of bones and tissues of the face. You may wonder how it occurs. The protein produced by the three genes can have a direct influence on the bones and tissue development of the face. The proteins produced by the three genes can involve in the production of rRNA (ribosomal RNA).

rRNA is also known as a chemical cousin of DNA. It helps with the assembling of amino acids (the protein building blocks) into new proteins. The new proteins aid in normal functioning as well as the survival of cells. The mutations of the three genes can result in the reduction of rRNA production. The decrease in the rRNA can result in apoptosis (self-destruction of cells) of facial bones and tissues. Therefore, it can lead to specific issues with facial development you can observe in TCS. Unfortunately, it is not clear as to why the low rRNA affects only facial development and no other parts of the body.

Diagnosis Of Treacher Collins Syndrome

To make the right diagnosis of the genetic disease can often cause problems. It is due to the similarity of the symptoms with other diseases. Therefore, healthcare professionals need to tread carefully to detect the rare disease. You need to consult a doctor who has experience in detecting the issue accurately based on the symptoms, medical history, physical exam, and test results. An experienced and skilled pediatrician can detect the issue based on the following diagnostic techniques:

Medical History

It is necessary to check the medical history of the child affected by the syndrome. If the child has a parent with affected genes, then it can help the doctor understand the problem better.

Genetic Testing

Your doctor can suggest genetic testing to determine the chromosome, proteins, and gene changes. The test can provide valuable information on the suspected genetic condition. The test can help rule out other conditions with similar signs. It can also determine your chances of developing or passing a genetic disorder in the future. It is not a diagnostic test that detects the problem conclusively. But, it can help in future family planning. The tests focus on detecting mutations in the three main genes known to cause Treacher Collins syndrome.

Physical Examination

The physical assessment performed by the doctor can reveal the extent of damage to the organs. Your doctor can analyze the physical features of the child to look for anomalies in teeth, eyes, ears, head, and other areas. Based on the assessment, your doctor can suggest further tests to analyze the extent of the problem.

Radiographic Exams

The radiographic exam offers a clear image of the face. So, it helps detect the abnormalities of the development of cheekbones and jawbone. The most common radiographic exams are x-rays and CT scans. It can check for problems with the development of jawbone and cheekbone.

Craniofacial CT Scan

A craniofacial CT scan is helpful in analyzing the anatomy of the head, ears, ear canal, and neck. It is mostly suggested by the doctors when a child suffers from hearing loss. It is an ideal diagnostic tool to detect the underlying cause of the hearing problem of young children(six months of age).

Other Tests

After the diagnosis confirms Treacher Collins Syndrome, the doctor performs several other tests. It is to check the extent of the problem the child suffers. So, the following tests can reveal the severity of the problem:

Check Airways

A childâ€™s airways are checked thoroughly to know the tendency of breathing problem. The risk of obstruction of the oropharynx offers the extent of breathing problem a child can face.

Ability To Swallow

Children suffering from TCS can experience a problem with swallowing food. Therefore, doctors test the ability of the child to swallow food.

Check Roof Of Mouth

Rood of mouth is checked to detect cleft or other problems with the palate.

Hearing Ability

The structural abnormality of the ear can lead to loss of hearing. So, your doctor can conduct hearing tests to check the extent of the damage.

Eye Test

Children suffering from TCS can experience eye problems. The abnormal eye structure can cause dryness and subsequent infections. Therefore, the doctor checks the eyes to detect the problems your child may face.

Based on the test results, the doctor can develop a treatment plan customized to meet your childâ€™s medical needs. Early intervention can help manage the severe condition and provide relief from the immense discomfort triggered by TCS.

Treatment For Treacher Collins Syndrome

You need to understand that TCS has no permanent cure. The treatments can only manage the condition. Based on the diagnostic tests, the doctor can customize a treatment plan that meets the specific needs of the affected individual. A team of expert doctors can offer the ideal treatment tailored to manage the specific conditions experienced by the affected person. A multidisciplinary team of doctor offers the treatment. The team can involve several health professionals like:

A pediatrician
A dentist
An orthodontist
Craniofacial surgeon (surgeons dealing with congenital deformities of head, skull, neck, face, and jaws)
A speech therapist
An eye doctor
An ENT (Ear, nose, and throat specialist)
A hearing specialist
A geneticist

The team of specialists works together to develop a treatment plan tailored to meet the medical demands of your child. So, the treatment options include:

Alleviate Breathing Issues

Newborn babies can have trouble breathing due to the constricted airway. Therefore, the treatment focuses on correcting the breathing problem. It involves understanding the working of the airway. So, methods like special positioning or making an opening in windpipe can improve breathing.

Overcoming Hearing Loss And Speech Problems

Doctors can help overcome the hearing problem with the use of hearing aids, bone conduction amplification, etc. To overcome speech problems, the affected person needs to undergo speech therapy. It will help them with verbal communication.

Surgical Intervention

Invasive surgery is necessary to correct several physical deformities occurring due to the syndrome. Therefore, doctors can suggest surgery in the infancy or childhood to rebuild or correct the areas on the face, neck, and jaw. So, the surgery aims to correct the following areas affected due to incomplete or abnormal development like:

The Skull
Face
Outer parts of the ear
The roof of the mouth
Lower Eyelid
Cheekbones
Eye sockets
Jaw
Nose
Teeth

But, the age of the affected person has an important part in the surgery. The doctors suggest specific surgery based on the age of the person. All palate problems are rectified when the child remains young (between one and two years of age). It includes repairs of the roof of the mouth. Surgery to correct the jaw, cheek, and eye socket becomes possible when the child ages 5-7 years of age. Ear corrections are possible after six years of age. While jaw repositioning is possible only after 16 years of age.

Other Therapies

To deal with behavioral and mental issues, the doctor can suggest the following therapies:

Occupational therapy
Educational Intervention

The therapies focus on making the child independent. So, it helps them overcome the problems they face due to the Treacher Collins syndrome and live in society. All the treatment options can only manage the condition. It does not eliminate the disease from its roots. So, the affected person needs lifelong medical intervention to deal with the problems arising due to TCS.

Treatments Under Investigation

While the surgical treatments offer relief from severe complications, it does not offer a complete cure. But, studies are still underway to find the best options to improve the outcomes of surgery or treat the problem in the womb. Some potential treatments are under investigation, which can offer better outcomes for the syndrome. No scientific results are confirmed for the treatment options, but it offers hope. The treatment under investigation are:

Improve Chances Of Surgery

The technique involves adding stem cells to the bone as well as cartilage. So, the chances of surgical outcome improve with the stem cells addition. Studies are still underway to detect the outcomes of stem cells addition to treating abnormalities of the face as well as the skull.

Treating In The Womb

While the current medical treatments focus on treating Treacher Collins Syndrome after birth, new studies focus on treating it in the womb. So, the treatment genetically manipulates a gene to block the adverse effects of TCS. Doctors try to manipulate the gene p53 while the embryo develops in the womb to avoid TCS. It is a groundbreaking treatment option, which has the potential to overcome the severe adverse effects caused due to TCS.

Preventing Treacher Collins Syndrome

If you have a child with TCS syndrome or have anyone in your family with the syndrome, then you need to maintain caution. You can undergo genetic counseling to determine the chances of having a child with the syndrome. It will also help you understand the chances of passing the condition to a child. Therefore, the information can guide you in the direction while planning for a child. You can make an informed decision based on the knowledge you gather about the outlook of Treacher Collins syndrome.

Conclusion

Children suffering from Treacher Collins Syndrome have normal development. They also have intelligence like normal children. But, the severity of problems depends on the individual. Each person suffering from the syndrome has specific symptoms. Children with the syndrome can suffer severe jaw abnormality, which can put their life at risk. It can trigger breathing problems can lead to fatal complications. Therefore, it is essential to get medical help. Early intervention can help manage the problem better. It can ensure a good quality of life for the affected person. Since the condition has no cure, early medical intervention can provide relief from the discomforts associated with the syndrome.

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Treacher Collins Syndrome: Causes, Picture, Symptoms, and Treatment