Saethre-Chotzen syndrome is a disease associated with craniosynostosis. Saethre-Chotzen syndrome is congenital, as the causes are genetic. The disease is referred to by the abbreviation SCS. The main symptoms of Saethre-Chotzen syndrome are synostosis of the cranial suture on one or both sides, ptosis, an asymmetrical face, unusually small ears, and strabismus.
What is Saethre-Chotzen syndrome?
Saethre-Chotzen syndrome occurs relatively rarely. However, with an estimated incidence of 1 in 25,000 to 1 in 50,000, Saethre-Chotzen syndrome occurs slightly more often than many other congenital hereditary disorders. Typical for Saethre-Chotzen syndrome are craniofacial malformations. Craniosynostosis occurs together with symphalangism and syndactyls. The Saethre-Chotzen syndrome is called by some physicians with the synonymous terms Chotzen syndrome or acrocephalosyndactyly syndrome type III. Basically, the common name of Saethre-Chotzen syndrome goes back to those individuals who first scientifically described the condition in 1931. These are the two physicians Chotzen and Saethre. In addition, there is a special form of Saethre-Chotzen syndrome in which patients have abnormalities of the eyelids in addition to the typical symptoms. This special feature is called Robinow-Sorauf syndrome. In the course of this disease, the patients’ big toes are split or partially double. To date, Robinow-Sorauf syndrome is thought to be an allelic variation of Saethre-Chotzen syndrome.
Causes
The factors for the pathogenesis of Saethre-Chotzen syndrome consist of genetic defects. With regard to the development of Saethre-Chotzen syndrome, both deletions and point mutations are particularly relevant here. These defective processes take place on the so-called TWIST1 gene. At the corresponding gene locus, the coding of a special transcription factor takes place. This determines cell lineages and is involved in differentiation. Due to genetic defects on this gene, the sutures of the skull fuse too early. The deletions result in a significantly different appearance of affected patients from the average. In addition, in some cases they are responsible for the fact that some individuals suffering from Saethre-Chotzen syndrome suffer from a reduction in mental abilities.
Symptoms, complaints, and signs
The clinical symptoms of Saethre-Chotzen syndrome vary in individual cases. Typically, affected individuals have synostosis as newborns, which occurs in the region of the coronal suture. This suture is also called lambdoid suture or arrow suture. For this reason, the skull of the patients has an unusual shape. Furthermore, there are often distinct asymmetries in the face of the individuals. 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 frequently present. The middle and index fingers are often partially joined at the skin. In the majority of cases, people affected by Saethre-Chotzen syndrome have an average intelligence quotient. However, some affected individuals show significant delays in intellectual development. In some individuals with Saethre-Chotzen syndrome, hearing loss develops during childhood. This is often a conductive hearing loss. In rare cases, patients suffer from short stature, hypoplastic maxillary bone, malformations of the heart or hypertelorism in addition to the general symptoms. In addition, some of the patients show a cleft palate, malformations of the vertebral bones, uvula bifida, and obstructive sleep apnea. If the synostosis is particularly severe, affected patients may experience impaired vision, pain in the head region due to increased internal pressure of the skull, and epileptic seizures. In extreme cases, individuals die as a result of their symptoms.
Diagnosis and course of the disease
The diagnosis of Saethre-Chotzen syndrome is usually made by a specialized physician.The general practitioner or pediatrician refers the patient to the appropriate specialist. An initial anamnesis in the presence of the parents or guardians of the patient, who is usually a child, provides information about the presenting symptoms. The clinical examination is based on the typical complaints, which in some cases are already strongly suggestive of Saethre-Chotzen syndrome. Visual examinations of the phenotype as well as various imaging procedures are in the foreground. For example, the treating physician uses X-ray and CT techniques. These usually focus on the area of the skull, the extremities and the spine. A reliable diagnosis of Saethre-Chotzen syndrome is ultimately possible with the help of a genetic laboratory test. If a deletion or a point mutation on the responsible gene is identified, the diagnosis of Saethre-Chotzen syndrome is considered confirmed. Likewise, differential diagnosis plays an important role, as some symptoms of Saethre-Chotzen syndrome are sometimes confused. The physician excludes Crouzon syndrome, Baller-Gerold syndrome, Pfeiffer syndrome, and Muenke syndrome.
Complications
A number of complications can occur as a result of Saethre-Chotzen syndrome. Affected individuals typically suffer significant delays in intellectual development. This can lead to social exclusion and, subsequently, the development of secondary psychological disorders such as depression or inferiority complexes. As a result of hearing loss, there may be further restrictions in everyday life and the quality of life of those affected is reduced. If malformations of the heart are present, heart failure may occur as a late consequence. Furthermore, epileptic seizures occur repeatedly in the course of the disease, increasing the risk of accidents. In the worst case, the affected person dies as a result of the various symptoms. Even with a positive course, physical and mental complications inevitably occur. Surgical treatment of the individual malformations is always associated with risks. During an operation, bleeding and infections as well as nerve injuries can occur. Afterwards, wound healing problems, inflammation and scarring may occur. Medications prescribed to accompany surgical treatment must be tailored precisely to the patient’s condition. Otherwise, life-threatening side effects and interactions may occur due to the different mental and physical disorders.
When should you see a doctor?
Saethre-Chotzen syndrome must always be evaluated and treated by a doctor. If left untreated, it can lead to serious complications that significantly limit the life of the affected person. Since this syndrome is a genetic disease, it cannot be completely cured. The patient is therefore dependent on purely symptomatic treatment. If the affected person wishes to have children, genetic counseling can also be performed to prevent the syndrome from being passed on to the children. A doctor should be consulted if the patient suffers from significantly delayed development. In this case, especially the intellectual development is severely limited. Hearing loss or short stature may also indicate Saethre-Chotzen syndrome and should always be examined by a doctor. In most cases, malformations of the heart also occur, so that the affected person is dependent on regular examinations of the heart. An initial examination and diagnosis of Saethre-Chotzen syndrome can be performed by a general practitioner or by a pediatrician. However, further treatment is carried out by different specialists and depends on the severity of the malformations.
Treatment and therapy
Patients with Saethre-Chotzen syndrome undergo various surgical procedures during childhood. This usually involves cranioplasty. The narrowed airways are widened and the cleft palate is closed. Regular check-ups monitor the hearing ability and the intellectual and motor development. It is also important to detect possible amblyopia in time. The same applies to papilledema with a chronic course.
Prevention
According to current research, Saethre-Chotzen syndrome cannot be prevented.
Follow-up
The extent of follow-up for Saethre-Chotzen syndrome (SCS) is based on the nature of the symptoms of the disease and their respective severity.Symptomatically, SCS can cause deformities in the head, midface, spine, and extremities and joints. In the majority of cases, the aforementioned body parts do not develop properly. Severe secondary diseases may follow the deformity. The task of follow-up care is to detect and treat secondary diseases of SCS as early as possible. The focus of follow-up care is to observe the course of the disease. Deformities in the head area, for example, are usually surgically reshaped. Blindness of the affected person can thus be avoided. During the follow-up of the reshaping, an ophthalmologist examines the optic nerves every quarter until the affected person is 12 years old. The follow-up examinations aim to detect as early as possible whether and to what extent the skull is again too narrow and, if so, whether 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 must be closely monitored neurologically by means of electroencephalographic recordings (EEG) as the disease progresses. Deformations in the remaining four body parts lead symptomatically regularly to movement restrictions. Aftercare focuses on increasing mobility by means of physiotherapy. Painful body parts are treated with medication.
What you can do yourself
The possibilities of self-help in Saethre-Chotzen syndrome are aimed at optimal management of the disease. The patient as well as the relatives are exposed to various challenges in coping, for which they should be prepared as extensively as possible. Attention should be paid to building up the patient’s self-confidence at an early stage. Due to the visual conspicuities, the disorder presents a particular difficulty in everyday life, which the patient should be able to cope with emotionally. For this purpose, the help and support of a psychotherapist can also be sought. As there are limitations of mental abilities, the development of the child has to be taken into consideration. Comparison with playmates of the same age should be avoided. The process of learning should also be geared to the possibilities and competencies of the patient. In the course of the disease, several surgical interventions are often required during the first years of life. To cope with these challenges, the organism should be supported with a healthy diet rich in vitamins. Optimal sleep hygiene and the avoidance of stress also help to alleviate symptoms. Many patients suffer from hearing loss in addition to the deformities. This circumstance must be taken into account in everyday life when reducing the risk of accidents as well as speech. Targeted training helps improve speech and communication with others.
