Treacher Collins Syndrome

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Treacher-Collins syndrome (also Franceschetti-Zwahlen syndrome, Berry syndrome or mandibulofacial dysostosis) is a rare, inherited developmental disorder in babies. The disease causes malformations of the skull and face, which often affect the ears, cheekbones, eyes or the lower jaw and chin. Read more about causes, symptoms, course and therapy here!

ICD codes for this disease: ICD codes are internationally recognized codes for medical diagnoses. They can be found, for example, in doctor's letters or on certificates of incapacity for work. Q75

Brief overview

• Description: Treacher Collins syndrome is a rare hereditary disease that often leads to malformations of the eyes, ears, jaw, palate, and zygomatic bone.
• Treatment: The therapy depends on the severity of the symptoms. Surgery to treat the malalignment, hearing aids for hearing problems or glasses for visual difficulties are possible.
• Causes: A defective gene (TCOF1 gene, POLR1C gene or POLR1D gene) that the parents pass on to the child
• Symptoms: malformations of the face and skull (e.g. eyes, ears, palate, cheekbones), hearing disorders, visual difficulties, breathing problems
• Diagnosis: The syndrome can usually be detected with the help of an ultrasound scan before the child is born. A molecular gene test (blood test) provides final certainty.
• Course: The disease has a very different course and ranges from mild forms, which are usually easy to treat, to life-threatening narrowing of the airways.
• Prevention: Genetic counseling before a planned pregnancy if the disease is known within the family

What is Treacher Collins Syndrome?

The Treacher-Collins syndrome (TCS for short) or Franceschetti-Zwahlen syndrome (dysostosis mandibulofacialis) is a rare hereditary disease. It affects about one in 50,000 newborn babies. In the disease, a genetic defect causes areas of the facial skull, such as the zygomatic bone, the lower jaw and / or the auricle, to develop incorrectly in the womb (facial dysmorphism). Often those affected also have hearing problems due to poor development of the outer and inner ear.

The name Treacher Collins Syndrome comes from the English doctor Edward Treacher Collins, who first described the disease in 1900. The doctors Adolphe Franceschetti and David Klein continued his work in 1949.

Who is affected?

Treacher Collins syndrome affects about one in 50,000 newborns and is therefore relatively rare. If one of the parents is ill, the probability that the disease will be passed on to the child is around 50 percent. However, due to mutations in the genome, it is also possible that the syndrome occurs in children whose parents are not affected by the disease.

How is Treacher Collins Syndrome treated?

Therapy for Treacher Collins syndrome is based on the symptoms that the disease triggers. It also depends on how severe the symptoms are.

The treatment of the usually very complex malformations requires close cooperation between various treating specialists and specialists, for example ENT doctors and plastic surgeons. The first priority is the rapid treatment of life-threatening forms of the syndrome. It is particularly important that the treatment is carried out as quickly as possible - sometimes even in the womb.

If, for example, the airways are narrowed (e.g. with a cleft palate when the tongue falls back), surgery is often necessary. To do this, the doctor surgically creates a connection between the windpipe and the outer air space, also known as a tracheostoma, by cutting a trachea. The doctor then inserts a plastic tube into the incision in the windpipe, which allows oxygen to enter the windpipe directly.

The doctor corrects the malformations of the face to a certain extent through operations or he reconstructs certain areas of the face (e.g. jaw). These include, for example, cleft palates and slight malformations of the auricles and eyelids.

If a malformation of the eyes or the eye sockets leads to visual difficulties, these are treated by an ophthalmologist (e.g. with glasses). The same applies to hearing disorders, which an ENT doctor usually provides with a hearing aid.

Since the Treacher Collins syndrome causes psychological stress on many people, it is also important that they receive therapeutic advice (e.g. psychotherapy) as early as possible. This helps prevent possible psychological problems such as depression.

How does Treacher Collins Syndrome develop?

The cause of the Treacher-Collins syndrome are genetic defects, so-called mutations, which occur either in the TCOF1 gene (affects around 90 percent of cases of the disease), in the POLR1C gene or in the POLR1D gene. Among other things, these genes are responsible for the development of features in the head. Therefore, a change in these genes leads to the typical malformations in the head area.

The disease occurs when there is only one defective gene on one of the two chromosomes. Scientists speak of an autosomal dominant inheritance with 90 percent penetrance. This means that if one of the parents has Treacher Collins Syndrome, the child has a 50 percent risk of developing the disease as well. However, there are big differences in how strong the symptoms are (expressivity).

The gene is inherited regardless of gender. Women and men are therefore equally affected.

In addition to the Treacher-Collins syndrome, other gene mutations are known today that lead to similar diseases. These include Elschnig syndrome, mandibulo-facial dysostosis-microcephaly syndrome (MFDM), Miller syndrome, Goldenhar syndrome and Nager syndrome.

How does Treacher Collins Syndrome manifest itself?

The symptoms of Treacher Collins syndrome express themselves very differently and can hardly be predicted. For example, the symptoms of the child differ greatly from those of the sick parents. However, there are certain symptoms that occur more frequently.

The main symptoms of Treacher Collins Syndrome include:

• Malformation or malformation of the zygomatic bone and / or the lower jaw bone (e.g. "receding" chin, also called micrognathia) and / or the auricle
• Cleft palate (also cleft lip and palate), in which the upper lip, the upper jaw and the palate are partially or completely traversed by a gap.
• Hearing disorders, e.g. due to a malformed auricle
• Eye misalignments such as strabismus or visual disturbances with vision loss
• Malformation of the eyelid
• Cleft formation (coloboma) in the eye, e.g. of the iris, lens, eyelid, retina or choroid: The corresponding structures have not grown together completely; in the middle they are split.
• Difficulty breathing due to obstruction of the respiratory organs

In most cases, the symptoms appear bilaterally, i.e. on both halves of the body. The symptoms can be mild, but in some cases the disease can also lead to life-threatening narrowing of the airways.

Since the Treacher Collins syndrome is chronic, it is usually necessary to have individual symptoms permanently checked by a doctor and, if necessary, treated.

What are the possible consequences?

It often happens that people with Treacher Collins syndrome cannot hear, see or speak well due to the malformation of their ears, eyes or jaws. If, for example, a malformation of the auricle occurs, those affected often complain of hearing impairments. Misaligned eyes can cause visual disturbances such as strabismus or loss of visual acuity.

A malformation of the lower jaw bone often leads to food intake problems in people with Treacher-Collins syndrome. In babies, for example, this means that they eat too little and are malnourished as a result.

If there is a cleft palate, the oral and nasal cavities are not separated from each other, but form a common space through the gap. The palate vault is missing, which means that the child's tongue can fall back and thus hinder their breathing in a life-threatening manner.

If the cleft palate is not closed, there is also the risk that food will get into the nose, which is very uncomfortable for those affected. Newborns with cleft palates often have difficulty creating negative pressure on the chest to suckle. As a result, the children often receive too little breast milk.

In addition to physical symptoms, many people with Treacher Collins syndrome experience psychological complaints. Because they often perceive the malformations on the face as aesthetically disturbing and are ashamed of their surroundings, which affects their self-esteem. Many fear being felt by other people as strange, embarrassing or even ridiculous, and develop a social phobia.

How does the doctor make a diagnosis?

To diagnose Treacher Collins syndrome, the doctor uses various examinations that he carries out after birth or in the womb. The first point of contact is therefore the gynecologist (gynecologist) or pediatrician (pediatrician). If necessary and for further examinations, they will refer the child to a specialist (e.g. specialist in human genetics).

When making a diagnosis, it is important to distinguish the syndrome from other hereditary diseases such as Nager syndrome, Miller syndrome or Goldenhar syndrome, which cause similar symptoms.

In most cases, the syndrome can be diagnosed before birth using ultrasound examinations as part of prenatal care. The doctor usually sees very quickly whether the child's facial areas are malformed. To confirm the diagnosis, the doctor will perform a molecular analysis of tissue samples from the mother's placenta (chorionic villus sampling).

The so-called OMENS classification is also a special diagnosis. With the help of this method, the doctor classifies and evaluates the severity of the symptoms. To do this, he assesses the following areas of the body that may be affected by the disease:

• Eye sockets (orbit)
• Lower jaw (mandible)
• Ears
• Facial nerve (nervus facialis)
• Soft tissue of the face area (soft issue)

Examinations with ultrasound, computed tomography (CT) and magnetic resonance tomography (MRT) can then be used to estimate more precisely how severe the disease is. Ultimately, the doctor clearly diagnoses Treacher Collins syndrome with the help of genetic tests (DNA analysis). To do this, he usually uses a blood sample or a small amount of saliva from the child, which is then examined in a laboratory using molecular biological methods.

What is Treacher Collins Syndrome like?

The success of the therapy depends on how severe the symptoms are. If those affected are treated early, the prognosis for mild forms of the disease is favorable. The life expectancy of people with well-treated Treacher Collins syndrome is hardly restricted.

In rare cases, however, life-threatening situations arise, for example when the airways are partially or completely narrowed due to the malformations. As a result, the patients no longer get enough air, which can lead to a life-threatening lack of oxygen. Early and regular check-ups with the doctor help to minimize such severe courses.

Operations sometimes help to correct or at least improve the malformations. The goals are to alleviate complaints such as breathing disorders, hearing disorders or visual disorders, as well as to achieve more aesthetically satisfactory results. However, operations also carry the risk of complications. Therefore, every intervention on the face and head should be carefully considered together with the doctors. Possible risks of operations are injuries to nerves, blood vessels and other tissue, which can lead to sensory disturbances, for example.

Aftercare

It is important for those affected to have regular check-ups with their doctor in order to quickly resolve new symptoms and avoid serious complications.

Follow-up care for Treacher Collins syndrome is carried out by the general practitioner, ear, nose and throat specialist, internist, plastic surgeon and other specialists, depending on the symptom. In the case of children, the pediatrician is usually involved in the treatment.

How can you prevent Treacher Collins Syndrome?

Treacher Collins syndrome cannot be prevented. However, it is possible to estimate in advance how high the risk of an illness is. Many manifestations and symptoms can also often be treated well if this is done in good time.

In the event of pregnancy, parents whose relatives are already aware of cases of the syndrome should therefore inform the treating gynecologist (gynecologist) at an early stage. This gives the doctor the opportunity to contact specialists who will accompany the pregnancy as early as possible.

It is also recommended that couples seek genetic counseling before a planned pregnancy if they or family members have Treacher Collins syndrome. Trained specialists inform the couples about the risks for disabilities and decision-making aids in connection with family planning. They are also informed about any genetic tests that may be required and their consequences.

Tags:  laboratory values vaccinations Menstruation