Diseases

Saethre-Chotzen Syndrome – Causes, Symptoms & Treatment

Saethre-Chotzen-Syndrom

Saethre -Chotzen syndrome is a disease associated with craniosynostosis. Saethre-Chotzen syndrome is congenital because the causes are genetic. The disease is referred to by the abbreviation SCS. The main features of Saethre-Chotzen syndrome are coronary artery synostosis on one or both sides, ptosis, an asymmetrical face, unusually small ears, and strabismus.

What is Saethre-Chotzen Syndrome?

Saethre -Chotzen syndrome is relatively rare. However, with an estimated frequency of 1:25,000 to 1:50,000, Saethre-Chotzen syndrome occurs somewhat more frequently than many other hereditary diseases . Craniofacial malformations are typical of Saethre-Chotzen syndrome. Craniosynostosis occurs together with symphalangism and syndactyly .

The Saethre-Chotzen syndrome is referred to by some doctors with the synonymous terms Chotzen syndrome or acrocephalosyndactyly syndrome type III . Basically, the common name of the Saethre-Chotzen syndrome goes back to those people who scientifically described the disease for the first time in 1931. These are the two doctors Chotzen and Saethre.

In addition, there is a special form of the Saethre-Chotzen syndrome, in which the patients also have anomalies on the eyelids in addition to the typical symptoms. This peculiarity is referred to by the term Robinow-Sorauf syndrome. In the context of this disease, the big toes of the patients are split or sometimes double. So far it has been assumed that the Robinow-Sorauf syndrome is an allelic variation of the Saethre-Chotzen syndrome.

causes

The factors in the pathogenesis of Saethre-Chotzen syndrome are genetic defects . With regard to the development of the Saethre-Chotzen syndrome, both deletions and point mutations are particularly relevant. These defective processes take place on the so-called TWIST1 gene. A special transcription factor is encoded at the corresponding gene locus. This establishes lineages of cells and is involved in differentiation.

Due to the genetic defects in this gene, the sutures of the skull fuse too early. The deletions result in an appearance of the affected patients that deviates significantly from the average. In some cases, they are also responsible for the fact that some people with Saethre-Chotzen syndrome suffer from mental limitations .

Symptoms, Ailments & Signs

The clinical symptoms of Saethre-Chotzen syndrome vary from case to case. Typically, the affected persons have a synostosis as newborns, which occurs in the area of ​​the coronary suture. This seam is also called lambda seam or dart seam.

Because of this, the patients’ skulls have an unusual shape. In addition, there are often clear asymmetries in the faces of the persons. In addition, the patients usually have a very high forehead with a low hairline, reduced ears and strabismus . Ptosis, brachydactyly , and stenosis of the lacrimal ducts are also common.

The middle and index fingers are often partly connected to each other in the area of ​​the skin. In the majority of cases, people suffering from Saethre-Chotzen syndrome have an average intelligence quotient. However, some of those affected show significant delays in intellectual development .

Some people with Saethre-Chotzen syndrome develop hearing loss during childhood. This is often a conductive hearing loss . In rare cases, patients suffer from short stature , a hypoplastic upper jawbone, cardiac malformations or hypertelorism in addition to the general symptoms .

In addition, some of the patients show a cleft palate , malformations of the vertebral bones, a uvula bifida and obstructive sleep apnea . If the synostosis is particularly pronounced, the affected patients may experience impaired vision , pain in the head area due to increased internal pressure in the skull, and epileptic seizures . In extreme cases, people die as a result of their symptoms.

Diagnosis & disease progression

The diagnosis of Saethre-Chotzen syndrome is usually made by a specialist doctor. The general practitioner or pediatrician will refer the patient to the appropriate specialist. An initial anamnesis in the presence of the guardians in the mostly child patients provides information about the present symptoms.

The clinical examination is based on the typical symptoms, which in some cases are already a strong indication of Saethre-Chotzen syndrome. The focus is on visual examinations of the phenotype and various imaging methods. The doctor treating you uses X- ray and CT techniques, for example. These usually focus on the area of ​​the skull, the extremities and the spine.

A reliable diagnosis of the Saethre-Chotzen syndrome is ultimately possible with the help of a genetic laboratory test. If a deletion or a point mutation is identified in the responsible gene, the diagnosis of Saethre-Chotzen syndrome is considered to be secure. The differential diagnosis also plays an important role, since some symptoms of the Saethre-Chotzen syndrome are sometimes confused. The doctor rules out Crouzon syndrome , Baller-Gerold syndrome , Pfeiffer syndrome , and Muenke syndrome .

complications

A number of complications can occur as a result of Saethre-Chotzen syndrome. Those affected typically suffer from significant delays in intellectual development. This can lead to social exclusion and, as a result, to the development of psychological complications such as depression or an inferiority complex. As a result of hearing loss, there can be further limitations in everyday life and the quality of life of those affected is reduced.

If there are malformations of the heart, heart failure can occur as a late consequence. Furthermore, in the course of the disease, epileptic seizures occur again and again, which increase the risk of accidents. In the worst case, those affected die as a result of the various symptoms. Even if the course is positive, there will inevitably be physical and mental complications. The surgical treatment of the individual malformations is always associated with risks.

Bleeding and infections as well as nerve injuries can occur during an operation. This can lead to wound healing disorders, inflammation and scarring. The drugs prescribed to accompany the surgical treatment must be precisely tailored to the patient’s condition. Otherwise, life-threatening side effects and interactions can occur due to the various mental and physical disorders.

When should you go to the doctor?

Saethre-Chotzen syndrome must always be evaluated and treated by a doctor. If left untreated, it can lead to serious complications that severely limit the life of those affected. Since this syndrome is a genetic disease, it cannot be completely cured. The patient is therefore dependent on purely symptomatic treatment. If the person concerned wishes to have children, genetic counseling can also be carried out to prevent the syndrome from being passed on to the children.

A doctor should be consulted if the patient suffers from a clearly delayed development. Intellectual development in particular is severely restricted. Hearing loss or short stature can also indicate Saethre-Chotzen syndrome and should always be examined by a doctor. In most cases, malformations also occur in the heart, so that the person concerned is dependent on regular examinations of the heart.

An initial examination and diagnosis of the Saethre-Chotzen syndrome can be carried out by a general practitioner or a pediatrician . However, further treatment is carried out by various specialists and depends on the severity of the malformations.

Treatment & Therapy

Patients with Saethre-Chotzen syndrome undergo various surgical procedures when they are still children. Usually a cranioplasty is used. The narrowed airways are widened and the cleft palate is closed. Regular check-ups monitor hearing, intellectual and motor development. It is also important to recognize possible amblyopia in good time. The same applies to papillary edema with a chronic course.

prevention

According to the current state of research, Saethre-Chotzen syndrome cannot be prevented.

aftercare

The scope of follow-up measures for Saethre-Chotzen syndrome (SCS) is based on the type of symptoms of the disease and their degree of severity. Symptomatically, SCS can cause deformities of the head, midface, spine, extremities, and joints. In the majority of cases of the disease, the aforementioned parts of the body do not develop normally. Serious secondary diseases can follow the deformation.

The task of aftercare is to identify and treat secondary diseases of the SCS as early as possible. The focus of the follow-up measures is the observation of the course of the disease. Deformations in the head area, for example, are usually surgically reshaped. Blindness of the affected person is thus avoidable. In the aftercare of the reshaping, an ophthalmologist examines the optic nerves of the affected person every quarter up to the age of 12.

The aim of the follow-up examinations is to identify as early as possible whether and to what extent the skull is again too narrow and there is a risk of blindness. With the reshaping of the skull, epileptic seizures can also occur in individual cases. These can be treated with medication during follow-up care.

The development of epilepsy can be closely observed neurologically as the disease progresses using electroencephalographic recordings (EEG). Deformations in the remaining four parts of the body regularly lead to restricted movement. Aftercare basically focuses on increasing mobility by means of physiotherapy. Painful parts of the body are treated with medication.

You can do that yourself

In the case of Saethre-Chotzen syndrome, the possibilities for self-help are aimed at optimally dealing with the disease. The patient and their relatives are exposed to various challenges in coping, for which they should be prepared as extensively as possible.

The patient’s self-confidence should be built up at an early stage . Due to the optical abnormalities, the disorder represents a particular difficulty in everyday life, which the patient should be able to cope with emotionally. The help and support of a psychotherapist can also be used for this. Since there are limitations in mental abilities, the development of the child must be taken into account. A comparison with playmates of the same age is not permitted. The learning process should also be geared to the patient’s capabilities and skills.

In the course of the disease, there are often several surgical interventions in the first few years of life. In order to cope with these challenges, the organism should be supported with a healthy diet rich in vitamins . Optimal sleep hygiene and avoiding stress also help to alleviate symptoms. Many patients suffer from hearing loss in addition to the malformations. This circumstance must be taken into account in everyday life when reducing the risk of accidents and when using language. Targeted training helps to improve language skills and communication with other people

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.