Treacher Collins Syndrome is one of the rare genetic problems that some people may be exposed to. This syndrome affects the shape of the face and causes deformation of some parts of the face, in addition to its effect on some vital functions in the body. Within Al Mousa Health Hospital, this syndrome is treated based on several successive programs, with more details about this syndrome, the symptoms it indicates, its causes, and the treatment methods followed.

What is Treacher Collins Syndrome?

Treacher Collins Syndrome is a rare genetic condition that affects the development of the shape of the face from childhood. It affects the shape of the jaws, facial bones, eyelids, and ears, and affects chewing, swallowing, breathing, hearing, and speech.

This syndrome is rare, as it affects one child out of every 50,000 children around the world. The shape of the child’s cheekbones is very small or completely hidden, and the shape of the ear is abnormal and may not exist. The severity of this syndrome varies from one child to another.

Treacher Collins Syndrome is one of the problems that cannot be completely cured, but some of the symptoms associated with it can be controlled, such as installing hearing aids, speech therapy, and other methods of treating symptoms.

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Causes of Treacher Collins Syndrome

Treacher Collins syndrome occurs mainly due to genetic problems and a mutation in a specific gene that affects the shape of the face and the formation of the child’s bones before birth. This defect is in one gene among the genes that control the growth of the facial bones. The reason behind the occurrence of this defect may be unknown. This problem is transmitted from parents by 40%, while the remaining 60% is not caused by parents.

This problem occurs due to a problem in the TCOF1 gene. TCOF1 is mapped to chromosome 5q31.3-33.3 links. These genes affect nuclear movement and affect the shape of the face. Although the main cause may be genetic and hereditary factors, some people may be affected by it without a previous genetic cause.

What are the symptoms of Treacher Collins Syndrome?

Symptoms of this syndrome may be mild to moderate depending on the severity of the disease. The most prominent symptoms of Treacher Collins syndrome are the following:

• The upper jaw is very small.
• The lower jaw and chin area are very small in size.
• The eyes are slanted downwards.
• The cheekbones are very small.
• A fissure appears in the lower eyelids.
• The child develops hearing loss resulting from problems in the ear canal or the bones in the ear.
• A crack appears in the lower eyelids.
• A person may experience complete hearing loss due to impairment in the transmission of sound through the tiny bones in the middle ear.
• The palate is cleft.
• The airway is very small due to respiratory problems.
• Skin grows in front of the ear.
• The number of teeth is less than normal, the teeth are crooked and their color is abnormal.
• The ear is round, small, deformed, or hidden. This shape of the ear affects hearing and affects the structure of the inner ear.
• It also leads to eye problems. The lower eyelid has a drooping shape, the corners of the eyelids are lower, and the tear duct is narrow. This problem may cause loss of vision and may lead to strabismus.
• The shape of the skull is different, the head is short, and there is a narrow space between the temples and the cleft palate.
• The intelligence level of people with this syndrome is low by 95%, and this may cause some social and psychological problems.

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Methods of treating Treacher Collins syndrome

Methods for treating Treacher Collins Syndrome vary according to the method considered by the specialist doctor, which differs from one child to another. Among the treatment methods used are the following:

• Performing surgery on the nasal area to open the closed airway and facilitate the breathing process.
• Fix in the eye wall or eyelids.
• Fixing the shape of the cheeks.
• Surgery to reconstruct the shape of the ears.
• Surgery in the cleft palate area.
• Cleft palate surgery is performed between the ages of 9 and 12 months.
• Hearing loss is treated by amplifying the conduction of the bones in the ear area.
• The process of building the cheeks usually takes place between 5 and 7 years of age, and relies on fatty oblique materials in the surrounding muscles so that the shape of the cheeks is fixed with them.
• The outer ear is reconstructed if the child is 8 years old and hearing problems are treated.
• Treating the shape of the teeth is through installing braces that maintain the shape of the teeth and jaw.

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Diagnosis of Treacher Collins syndrome

Doctors can diagnose this syndrome by taking the person's medical and medical history, in addition to conducting a careful physical examination that reveals the presence of the problem through the shape of the face, the shape of the head, and the shape of the oral structure.

Genetic consultation in the event that there is a family member who suffers from this problem. In this case, genetic tests are performed before pregnancy. The doctor also performs a CT scan using X-rays, which makes the image more accurate, or by performing genetic tests by taking a biopsy of the chorionic villi or examining the mother’s amniotic fluid.

Frequently asked questions

Is Treacher Collins syndrome hereditary?

Yes, the main cause of Treacher Collins Syndrome is a defect in the genetic factors, and this problem can be detected by performing x-rays during pregnancy or after birth and conducting examinations on the child.

What is craniofacial syndrome?

Craniofacial deformity is a congenital deformity that occurs in the structure of the face and skull and greatly affects the shape of the eyes, nose, jaw and fetus. It affects the physical appearance, functions of the nose and hearing, and hinders normal breathing and eating.

How do I know if I suffer from Joxa syndrome?

Joska Syndrome is a type of psychological disorder that causes a person to think excessively, live in an unrealistic scenario, and live in unjustified fears. People with this syndrome suffer from constant fear, anxiety, and overthinking.

After learning all the information about Treacher Collins Syndrome, such as the causes and symptoms, it is one of the genetic problems from which it is difficult to recover completely, but treatment within Al Mousa Health Hospital may aim to treat the symptoms and problems with hearing, chewing, or vision that this syndrome may be the cause of.

Sources 

Treacher Collins Syndrome – clevelandclinic

Treacher Collins syndrome – medlineplus