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What is Treacher Collins Syndrome?

by Josephine Andrews
Published: Last Updated on 382 views

Treacher Collins syndrome (also known as 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 lower jaw and chin. Read more about causes, symptoms, course and therapy here!

ICD codes for this disease:

ICD codes are internationally valid codes for medical diagnoses. They can be found, for example, in doctor’s letters or on certificates of incapacity for work.

Q75

quick overview

  • Description: Treacher Collins Syndrome is a rare inherited condition that often causes malformations of the eyes, ears, jaw, palate and cheekbones.
  • Treatment: The therapy depends on the severity of the symptoms. Options include operations to treat the misalignment, possibly hearing aids for hearing problems or glasses for vision problems.
  • 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 before the child is born using an ultrasound scan. A molecular gene test (blood test) provides final security.
  • Course: The disease progresses very differently and ranges from mild forms, which are usually easy to treat, to a life-threatening narrowing of the airways.
  • Prevention: Genetic counseling before a planned pregnancy if the disease is known in the family

What is Treacher Collins Syndrome?

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 case of the disease, a genetic defect causes areas of the facial skeleton, such as the cheekbone, the lower jaw and/or the auricle , to develop incorrectly in the womb (facial dysmorphism). Those affected often also have hearing problems due to an abnormal 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. 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 parent 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 for the syndrome to occur in children whose parents are not affected by the disease.

How is Treacher Collins Syndrome treated?

The therapy for Treacher Collins syndrome depends 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 manifestations of the syndrome. It is particularly important that the treatment takes place as quickly as possible – sometimes even in the womb.

If, for example, the airways are narrowed (e.g. in the case of a cleft palate when the tongue falls back), an operation is often necessary. For this purpose, the doctor provides, for example, through a tracheotomy and the outer air space, also known as the tracheostoma, by making an incision in the trachea, for example. The doctor then inserts a plastic tube into the tracheotomy, which allows oxygen to flow directly into the trachea.

The doctor corrects the deformities of the face to a certain extent through operations or he reconstructs certain areas of the face (e.g. jaw ). This includes cleft palate and slight malformations of the auricles and eyelids.

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

Since Treacher Collins syndrome is a psychological burden for many of those affected, it is also important that they receive therapeutic advice (e.g. psychotherapy ) as early as possible. This makes it easier to prevent possible psychological problems such as depression.

What causes Treacher Collins Syndrome?

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

The disease already 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, there is a 50 percent risk of the child also developing the disease. However, there are big differences in how severe the symptoms are (expression).

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

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

What is Treacher Collins Syndrome?

The symptoms of Treacher Collins Syndrome manifest themselves in very different ways and are difficult to predict. For example, the symptoms of the child sometimes 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 cheekbones and/or the lower jawbone (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 cleft.
  • Hearing disorders, eg due to a malformed auricle
  • Eye deformities, such as squinting 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 completely grown together; they are split in the middle.
  • Difficulty breathing due to obstruction of the respiratory organs

In most cases, the symptoms occur bilaterally, i.e. on both sides 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 Treacher Collins syndrome is chronic, it is usually necessary to have individual symptoms monitored by a doctor and treated if necessary.

What consequences can occur?

It often happens that people with Treacher Collins syndrome cannot hear, see or speak well due to the malformation of their ears, eyes or jaw. If, for example, a malformation of the auricle occurs, those affected often complain about hearing disorders. Eye malpositions sometimes cause visual disturbances such as squinting or loss of visual acuity.

A malformation of the mandible often leads to problems with eating in people with Treacher Collins syndrome. In babies, for example, this means that they eat too little and are therefore malnourished.

If a cleft palate occurs, the oral and nasal cavities are not separated from each other, but form a common space through the gap. The arch of the palate is missing, allowing the child’s tongue to fall back and life-threateningly impeding their breathing .

If the cleft palate is not closed, there is also a risk of food getting into the nose , which is very uncomfortable for those affected. Newborns with cleft palate often have difficulty creating negative pressure for sucking at the breast . As a result, the children often receive too little breast milk.

In addition to the physical symptoms, many people with Treacher Collins syndrome experience psychological symptoms. Because they often find the malformations on their face aesthetically disturbing and feel ashamed in front of their environment, which affects their self-esteem. Many are afraid of being perceived by other people as strange, embarrassing or even ridiculous and develop 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 already in the womb. The first point of contact is therefore the gynaecologist or pediatrician. If necessary and for further examinations, they will refer the child to a specialist (e.g. a specialist in human genetics).

It is important in the diagnosis to differentiate 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 by means of ultrasound examinations as part of prenatal care. The doctor usually sees quite quickly whether facial areas of the child are malformed. To confirm the diagnosis, the doctor performs a molecular analysis of tissue samples from the mother ‘s placenta ( chorionic villus biopsy ).

The so-called OMENS classification also represents 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 (orbita)
  • lower jaw (mandible)
  • ears
  • facial nerve
  • Soft tissue of the face (soft issue)

Ultrasound , computed tomography (CT) and magnetic resonance imaging (MRI) examinations can then be used to more accurately assess how severe the disease is. Ultimately, the doctor clearly diagnoses Treacher Collins syndrome using genetic testing (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?

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 limited.

In rare cases, however, life-threatening situations occur, for example if the airways are partially or completely narrowed by the malformations. As a result, the patients can 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 deformities. The goals are to alleviate symptoms such as breathing disorders, hearing disorders or visual disorders, and to achieve aesthetically more satisfactory results. Surgery also carries the risk of complications. Therefore, any surgery 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 eliminate any new symptoms and avoid serious complications.

Depending on the symptoms, aftercare for Treacher Collins syndrome is carried out by the general practitioner, ear, nose and throat specialist, internist, plastic surgeon and other specialists. In the case of children, the pediatrician is usually involved in the treatment.

How to prevent Treacher Collins Syndrome?

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

In the event of pregnancy, parents whose relatives already have known cases of the syndrome should inform the treating gynaecologist at an early stage. This gives the doctor the opportunity to establish contact with specialists who will accompany the pregnancy as early as possible.

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

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