Treacher Collins syndrome is a hereditary disease that causes facial deformities. The disease is now often referred to as Franceschetti-Zwahlen syndrome, Berry syndrome or dysostosis mandibulofacialis. The formation of the malformations caused by the syndrome are very variable, but often the chin, the eyes, the ears, the palate or the cheekbones are affected.
What is Treacher Collins Syndrome?
Treacher Collins syndrome is a hereditary disease that occurs on average in around 50,000 newborns and is therefore relatively rare. It was discovered by English doctor Edward Treacher Collins in 1900. The ophthalmologist was the first to describe the combined and joint occurrence and characteristic features of the syndrome and its symptoms. For short stature basics, please visit theinternetfaqs.com.
His work was continued by Adolphe Franceschetti and David Klein in 1949. They also eventually introduced the medical term “dysostosis mandibulofacialis,” which stands for the symptom complex (the complex of the symptoms and symptoms) of the disease. In addition to the actual Treacher Collins syndrome, some similar gene mutations are now known, such as Elschnig syndrome, which always only affects the eyelids. Sometimes these also occur together with Treacher Collins syndrome. If one parent already has the syndrome, there is an increased risk that a child will also develop it.
The syndrome is a hereditary disease that is inherited in an autosomal dominant manner. This means that a defective and mutated allele (a gene form) in the dominant part of the genome is sufficient to cause the disease characteristics to develop. Since the information is on one of the 22 pairs of autosomes and not on the sex chromosomes, Treacher Collins syndrome is also inherited regardless of gender.
For example, if one parent already suffers from the syndrome, there is a 50 percent risk for the child of also developing it. If both parents suffer from the syndrome, the risk increases to 75 to 100 percent. Here it depends on whether the parents are heterozygous or homozygous – i.e. whether they have identical or different alleles. Incidentally, the syndrome can also skip generations.
Symptoms, Ailments & Signs
Symptoms and features of the syndrome can vary widely and are rarely predictable or similar, even in parents who are already ill. Today, mild forms of the disease as well as life-threatening cases are also known. Because with Treacher Collins syndrome, there are not only deformities in the visible area of the face, but the respiratory tract or bone conduction can also be affected. However, the syndrome is often characterized by bilateral symptoms.
These are expressed, for example, in a malformation of the cheekbones (called zygomatic bone), a defective formation of the lower jawbone (called mandible) or the auricle (called auricula). In addition, malformations such as a cleft palate, deformed eyelids, incorrect eye positions, impaired vision, impaired hearing and breathing problems due to obstruction of the airways can also be consequences of the syndrome.
Diagnosis & course of disease
Treacher Collins syndrome is usually diagnosed by clinical findings: either after birth or in the womb. A frequently used method to diagnose the syndrome today, for example, is the OMENS classification. This evaluates the severity of the symptoms with regard to the orbit (eye socket), the mandible, the ear (ear), the facial nerve and the soft tissue of the face area (soft tissue).
In addition, however, to be really sure, various radiological examinations should always be carried out. These can often be used to estimate the severity and extent of the disease. Finally, however, genetic diagnostics carried out at the molecular level can also secure the diagnosis – and provide clarity.
In Treacher Collins syndrome, the complications stem from any malformations. The hereditary disease can manifest itself, for example, in a faulty formation of the lower jawbone. If such a malformation is present, problems with food intake may occur. In infants, inadequate nutrition can quickly lead to deficiency symptoms.
Furthermore, in the context of Treacher Collins syndrome, there can be a malformation of the auricle, which can be associated with hearing disorders. Other malformations such as a cleft palate or deformed eyelids are associated with individual complications. Typical subsequent complaints are breathing problems, visual disturbances and functional disorders of the sense of smell, but also diseases of the bone conduction.
Aesthetic malformations represent a psychological burden for most of those affected. If therapeutic advice is not provided early on, social phobia and inferiority complexes can develop, which often last a lifetime. Complications can also arise when treating Treacher Collins syndrome.
Surgical interventions always carry a certain risk of surgical errors, which can cause various problems depending on the location of the intervention. Typical are injuries to nerves, vessels or tissue structures, which can cause sensory disturbances and functional disorders, for example. Drug treatment of young children is always associated with certain risks.
When should you go to the doctor?
With Treacher Collins syndrome, the person affected is dependent on medical treatment and examination so that there are no further complications or symptoms. Early diagnosis with subsequent treatment always has a positive effect on the further course of the disease and can prevent further deterioration of the symptoms.
A doctor should be consulted for Treacher Collins syndrome if the person affected suffers from severe malformations or deformities. These occur all over the body and have a very negative effect on the quality of life of those affected. Visual or hearing problems can also indicate the syndrome and should also be examined by a doctor. Most people affected by Treacher Collins syndrome also suffer from breathing problems, so these problems should also be checked by a doctor.
A general practitioner can be contacted for Treacher Collins syndrome . The further treatment depends strongly on the type and the exact extent of the symptoms, so that no general course can be given. If you wish to have children, genetic counseling can also be carried out.
Treatment & Therapy
The type and success of treatment for Treacher Collins syndrome always depend on the complexity and severity of the symptoms. Today, purely aesthetic malformations can often be treated very well with modern plastic surgery. This also applies to numerous malformations caused by the syndrome that would affect the quality of life of the infant but are not life-threatening – such as a malformation of the eyelids, a slight cleft palate or minimal malformations of the auricles.
The situation is different for life-threatening manifestations of the syndrome, such as a malformation of the airways. Characteristics like these can often be treated by surgical intervention. However, it is important here that the treatment takes place as quickly as possible – sometimes even in the womb. In addition, it is not uncommon for symptoms such as hearing or visual damage, which can also be triggered by the syndrome, to be treated. This often requires close cooperation between the various treating specialists.
Treacher Collins syndrome cannot be prevented. The most that can be estimated in advance is the level of risk that the child will develop such a disease. And: Many characteristics and symptoms can often be treated if this is done in good time and if necessary. For this reason, parents suffering from the syndrome or parents whose families have already had Treacher Collins syndrome should definitely inform the treating gynecologist – so that they can contact specialists as early as possible.
They will then usually accompany the pregnancy with various diagnoses and intervene if necessary: but at the latest after the birth, in order to treat even mild manifestations of the syndrome as best as possible and to improve the quality of life of the affected child.
Follow-up care for Treacher Collins syndrome depends on how severe the facial deformities are and what additional symptoms occur. Part of the aftercare is always a physical examination and a conversation with the patient. During the physical examination, the course of the malformations is checked.
If complications such as inflammation or sensory disturbances occur, further treatment is required. As part of the anamnesis, side effects and interactions of the prescribed medication are checked. In addition, open questions from the patient are clarified. If no complications occur, the patient can be discharged.
Since Treacher Collins syndrome is a chronic disease, the individual symptoms must be treated permanently. Regular check-ups by the doctor are necessary in order to be able to quickly eliminate symptoms that can occur during the course of the disease and to avoid serious complications. You usually have to visit a specialist clinic for this.
The routine checks, on the other hand, can be carried out by the general practitioner. However, this always depends on the severity of the disease. Depending on the symptoms, the aftercare for Treacher Collins syndrome is carried out by the general practitioner, ear specialist, internist or surgeon. In the case of children, the pediatrician is usually also involved in the treatment.
You can do that yourself
Treacher Collins syndrome is characterized by complex malformations and physical limitations. The self-help measures are based on the individual complaints.
After a corrective procedure, general measures such as rest, rest and compliance with the doctor’s instructions apply. Any wounds or scars should be cared for in consultation with a dermatologist to minimize skin changes. Affected people must contact an ENT specialist and an ophthalmologist at an early stage so that the respective symptoms can be treated. Hearing loss therapy can be supported by wearing a hearing aid.
Treacher Collins syndrome is always a psychological burden for those affected. The malformations can massively impair self-esteem and cause serious mental illness. That is why contact with other affected people and specialists who point out treatment perspectives is one of the most important self-help measures. Patients suffering from Treacher Collins syndrome are best advised to contact a specialist clinic or contact other patients on the Internet. The association ACHSE e. V. supports people with rare diseases and provides them with additional tips and contact points that can be used to specifically support medical therapy.