Treacher Collins: symptoms, causes, treatment • hello healthy

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Definition

What is Treacher Collins syndrome?

Auggie, the child with Treachers Collin Syndrome in the film "Wonder" (Source: Yahoo)

Treacher Collins Syndrome (TCS) is a congenital birth defect when the bone and tissue development in the baby's face is imperfect.

Treacher Collins syndrome is a condition that causes a newborn to develop deformities in the ears, eyelids, cheekbones and jawbones.

This congenital abnormality or defect is caused by a gene mutation that affects the development of the baby's facial skeleton and skull.

This condition has many names such as mandibulofacial dysostosis, Treacher Collins-Franceschetti syndrome, Franceschetti-Zwahlen-Klein syndrome, and zygoauromandibular dysplasia.

How common is this condition?

Treacher Collins syndrome is a rare inherited disorder. Quoting from the U.S National Library of Medicine, this condition can occur in 1 in 50,000 newborns.

Signs & Symptoms

What are the signs and symptoms of Treacher Collins syndrome?

The symptoms of Treacher Collins syndrome can vary from baby to baby. Generally, babies born with Treacher Collins have deformed or underdeveloped forms of ears, eyelids, cheekbones, and jawbones.

In addition, some babies with Treacher Collins also have very small jaws and chins (micrognathia), and cleft lip.

The various signs and symptoms of Treacher Collins that usually appear are as follows:

• A face that is flat, sunken, or looks sad
• The outer corner of the eye that slopes downward
• Drooping eyelids
• Eyes slanted downward
• Loss of eyelid tissue
• Cleft palate or a hole in the roof of the mouth (cleft)
• Small upper jaw, lower jaw, and chin
• Cheekbones that are smaller than normal
• The number of teeth is less than the normal number
• There is skin that grows in front of the ear
• The earlobes are small or even absent
• Abnormal skin growth in front of the ear
• Hearing disorders
• Breath problems
• Children have trouble sleeping and have difficulty eating

The various symptoms above can make babies and children with Treacher Collins syndrome have problems. These problems can include difficulty breathing, sleeping, eating, and hearing.

In fact, babies and children with this birth defect can also experience deafness or hearing loss. Meanwhile, problems with dry teeth and eyes experienced by babies and children can lead to infection.

Some children may experience very mild symptoms, but some are quite severe. In severe cases, abnormally shaped facial bones can block or block the baby's airway.

This runs the risk of causing life-threatening breathing problems for your little one.

When to see a doctor?

Treacher Collins is a condition that can easily be seen from the time of the newborn. If you see the baby has the symptoms above or other questions, consult a doctor immediately.

The health condition of each person is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Treacher Collins syndrome?

Treacher Collins syndrome (TCS) is caused by mutations in one of the three genes that control bone and tissue growth around the face, namely TCOF1, POLR1C, and POLR1D.

Mutations cause the process of bone formation and facial tissue not to run optimally while they are still in the womb, causing an abnormal facial shape.

About 90-95% of Treacher Collins cases in the world are caused by mutations in the TCOF1 gene. This mutation usually occurs early in pregnancy so that the baby's growth does not occur as it should.

About 40% of children with Treacher Collins carry genes that are inherited from their parents, while the remaining 60% do not have the genes inherited from their parents.

Nearly all children with Treacher Collins have a genetic mutation in precisely one of the three genes that regulate bone growth in the face and surroundings.

This gene mutation then causes growth disorders in the baby and the shape of the face and skull that are not normal since the beginning of pregnancy or around the first trimester.

In most cases, TCS is caused by a new gene mutation. This means that neither the father nor the mother has the gene or Treacher Collins symptoms at all.

In other words, TCS is generally not an inherited disorder from the parents. If the mutation is new, the DNA change occurs right before or immediately after the fertilization of the egg by the sperm.

However, there is also the possibility that gene mutations are not new or are passed from parent to child. Most likely this occurs when one or both parents have only mild symptoms of Treacher Collins syndrome.

That is why, you as a parent may not be aware that you have this genetic mutation.

Risk Factors

What increases the risk of developing Treacher Collins syndrome?

Some conditions that can increase a baby's risk of developing Treacher Collins are when a parent has a TCS gene mutation that then passes on to the baby.

We recommend that you consult further with your doctor to reduce the risk factors that you and your baby may have.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

The doctor will perform a physical examination when the newborn is born to diagnose the possibility of Treacher Collins syndrome.

Launching from Kids Health, an x-ray or x-ray examination of the baby's face can help identify the typical characteristics of TCS.

CT scan examination (computed tomography scan) can also be done to help see the condition of the baby's bone structure. In addition, doctors can also recommend genetic testing on babies.

Genetic testing can help determine the specific disorder that a baby has. Because it does not rule out, various genetic disorders can show almost similar physical symptoms.

So, genetic disorders experienced by babies can be identified more clearly through examination. Meanwhile, during pregnancy, TCS can be diagnosed through an ultrasound examination (USG).

The development of TCS in infants in the womb can be observed by looking at their facial features. Furthermore, the doctor will do the examination with an amniocentesis test.

This test is done by taking a sample of the mother's amniotic fluid for further examination. If TCS is found in a baby, doctors usually advise other family members, such as parents and siblings, to do genetic testing as well.

This method is considered to help show if there are indeed carriers of recessive genes or genes that are weak.

So, this recessive gene does not give any symptoms to the carrier, for example the parents, but it can be passed on to the child, causing the child to experience symptoms.

Genetic testing for Treacher Collins syndrome is usually done by taking samples of blood, skin, and amniotic fluid during pregnancy which will be examined in the laboratory. Next, search for mutations of the TCOF1, POLR1C, and POLR1D genes in the sample.

What are the treatment options for Treacher Collins syndrome?

Treatment for Treacher Collins syndrome will depend on the symptoms that appear and the severity of the condition.

The treatment does not only involve a pediatrician, but also the intervention of certain specialists or specialists such as skull and facial surgeons, ENT specialists, ophthalmologists, dentists, geneticists, to hearing specialists.

Treatment for Treacher Collins syndrome usually starts when the baby is born. The reason is, babies born with TCS have difficulty breathing because of the narrow airways.

Severe breathing problems are usually helped by cutting the skin in the front of the neck to make a hole so that a tube can be inserted in the windpipe.

This procedure is called a tracheostomy and is usually performed in an emergency setting to open the airway. In addition, babies with TCS also usually have problems eating so they need a feeding tube to the stomach that is placed in the nose.

Meanwhile, to improve the shape of the face, the surgeon can suggest plastic surgery according to the specific problem and according to the child's age. Generally, the recommended surgical procedures are:

• Cleft lip surgery is usually done at the age of 1-2 years.
• Cheek, jaw and eye surgeries are usually performed at 5 to 7 years of age.
• Ear surgery is performed over the age of 6.
• Jaw shape correction is done before the child is 16 years old.

Children growing up with this syndrome continue to need regular eye examinations. It aims to detect vision problems, eye movement, and corneal irritation problems because the eyelids cannot close completely.

The doctor will also treat hearing loss by attaching hearing aids and doing speech therapy if he speaks late.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.