The Baller-Gerold syndrome belongs to the group of malformation syndromes with predominant involvement of the face. The syndrome is due to mutations and is passed on in an autosomal dominant mode of inheritance. Therapy is limited to symptomatic treatment, which consists largely of surgical correction of the malformations.
When diagnosing Baller-Gerold syndrome, the doctor must differentiate the clinical picture from clinically similar syndromes such as Rapadilino syndrome or Rothmund-Thomson syndrome after the first visual diagnosis.
In the disease group of congenital malformation syndromes, malformation syndromes with predominantly facial involvement form a separate subgroup. Baller-Gerold syndrome falls into this subgroup. The disease owes its name to the first descriptions of F. Baller and M. Gerold, who first documented the disease in the middle of the 20th century.
The prevalence given for the syndrome is a ratio of one to 1,000,000. The main symptoms of the symptom complex are the early closure of the cranial sutures in the sense of a craniosynostosis and the non-placement of the radial bones. According to current knowledge, Baller-Gerold syndrome is a hereditary condition that can be traced back to a genetic mutation.
Although Baller-Gerold syndrome is extremely rare, the cause is already known. A genetic mutation in the RECQL4 gene on chromosome 8q24.3 is responsible for the syndrome. The gene codes for an enzyme called RecQ Helicase in human DNA. This enzyme untangles the strands of DNA and prepares them for reduplication. If the coding gene is mutated, the enzyme is defective and can no longer perform its task satisfactorily.
The result is the individual symptoms of Baller-Gerold syndrome. In connection with the causative mutation, familial accumulation was observed, which speaks for the hereditary nature of the disease. Apparently the mutation is passed on in the autosomal dominant mode of inheritance. It has not yet been fully clarified whether, in addition to genetic factors, external factors such as exposure to toxins play a role in the development of the disease.
Clinically, the symptom complex of Baller-Gerold syndrome is characterized by premature suturing synostosis that takes place before birth. The patients also suffer from a radial defect that is associated with aplasia of the radius and sometimes includes a malformation of the thumb.
The thumb-side carpal and metacarpal bones can also appear dysplastic or hypoplastic. The same applies to the finger extensor muscles located there. In addition, the patients often suffer from short stature, which can be associated with skeletal malformations of the spine or malformations of the shoulder and pelvic girdle. Some people also have heart defects, anal atresia, or have dislocated kidneys.
Often, facial dysmorphisms also occur, which can manifest themselves in the form of hypertelorism, an epicanthus or a prominent root of the nose. Malformed auricles are also conceivable dysmorphisms. Often those affected are mentally retarded because of the early seam closure. As infants, they sometimes suffer from poikiloderma.In children, the disease often manifests itself in the form of hypoplasia of the patella. Because of the mutation, patients are also more prone to developing osteosarcomas.
When diagnosing Baller-Gerold syndrome, the doctor must differentiate the clinical picture from clinically similar syndromes such as Rapadilino syndrome or Rothmund-Thomson syndrome after the first visual diagnosis. These syndromes are based on the same genetic mutation. Another cause is the clinically relatively similar Saethre-Chotzen syndrome, which must also be differentiated.
In addition, the radial defects of the syndrome must be differentiated from Roberts syndrome. If poikiloderma is present, this symptom is called pathognomonic. Theoretically, there is the possibility of a molecular genetic analysis for diagnosis and confirmation of the diagnosis. The prognosis depends on the manifestations in the individual case. In the long term, osteosarcomas, for example, worsen the prognosis considerably.
Baller-Gerold syndrome can lead to various complications that can lead to malpositions in the body. As a rule, Baller-Gerold syndrome leads to malformations of the skeleton and the spine. These malformations are accompanied by short stature and have a very negative effect on the quality of life.
Children in particular can suffer from short stature if they are teased or bullied because of the symptom. It is not uncommon for Baller-Gerold syndrome to be accompanied by mental retardation, which greatly reduces the patient's concentration and ability to learn. The person affected is often dependent on the help and care of other people.
The symptoms reduce life expectancy. The likelihood of tumor formation also increases, which can result in life-threatening complications that, in the worst case, can lead to death. The causal treatment of Baller-Gerold syndrome usually takes place directly after birth through surgical interventions.
Furthermore, the patient must be careful to use a lot of sun protection so that skin cancer does not occur. Baller-Gerold syndrome can lead to gait disorders and further fractures that can make life difficult. However, the symptoms can be limited with the help of walking aids.
A doctor's visit should be made if Baller-Gerold syndrome and similar syndromes are suspected. After the first visual diagnosis, the doctor can differentiate the disease from comparable diseases and start treating the symptoms. Typical warning signs that require medical clarification are malformations of the thumb-side carpal and metacarpal bone, especially of the thumb and extensor muscles. In addition, there are usually malformations of the spine and shoulder or pelvic girdle as well as short stature.
Heart defects and malformed roots of the nose, auricles and cheekbones can also occur. If any of these symptoms are found, a doctor should be consulted. Most of the time, however, the disease is diagnosed in childhood. Affected children are mostly mentally retarded and are tested for Baller-Gerold syndrome as part of the initial examination after birth.
If the syndrome is weak, diagnosis is usually made in the first few years of life. If the above-mentioned clinical picture occurs, the child concerned should definitely be taken to the pediatrician. This is especially true if slight misalignments or mental problems have been noticed in the past.
Causal therapy is not available for patients with Baller-Gerold syndrome. Gene therapeutic approaches are currently the main subject of research in medicine. However, they have not yet entered the clinical phase. For this reason, all diseases based on genetic mutations have so far been incurable. Until gene therapy approaches are approved, a purely symptomatic treatment is used for such diseases.
In malformation syndromes such as Baller-Gerold syndrome, symptomatic treatment usually corresponds to surgical resolution of the multiple malformations. The patient's craniosynostosis is usually surgically corrected within the first six months so that the subsequent symptoms remain as low as possible. The thumb can possibly be treated surgically reconstructively.
This treatment is usually based on an operative transposition of the index finger. Present heart defects must be corrected as quickly as possible. Surgical correction of displaced kidneys may also be necessary in individual cases. Mental retardation can be countered in a supportive manner through early intervention approaches. As a rule, children who are supported in this way develop normal intelligence despite the syndrome.
Because of their disposition to cancer, patients with Baller-Gerold syndrome must also take part in preventive examinations regularly and as closely as possible. People are often advised to avoid sun exposure. This reduces the sensitivity to cancers such as skin cancer.
If cancer breaks out, the disease is usually recognized early enough by means of close-knit preventive examinations. In a large number of cases, those affected lead a relatively normal life in adulthood and enjoy hardly any reduced quality of life.
Preventive measures for genetic and mutation-related diseases such as Baller-Gerold syndrome are only available in moderation. After evidence of pathogenic RECQL4 mutations has been established, affected parents can use prenatal diagnostics in the event of further pregnancies and, under certain circumstances, decide against the child. Genetic counseling during family planning can also largely be described as a preventive measure.
The patients with Baller-Gerold syndrome suffer from malformations of some internal organs that require surgical correction. Self-help measures are not possible with these complaints, but the person affected supports the success of medical therapies through their behavior. During his stays in the clinic, he follows the instructions of the doctors and supports the regeneration of the organism with sufficient rest.
The hand and fingers are often affected by deformities that make everyday manipulations difficult. The patient promotes his motor skills in the appropriate areas by completing physiotherapy and performing the training units learned at home. A similar therapy can also be used for any gait disorders, with the patient often also using walking aids.
Sports activities are possible depending on the physical condition of the person concerned and usually have a beneficial effect on well-being. However, the prerequisite is that all sporting activities are approved by a doctor.
If the disease is associated with impaired cognitive performance, the patients still receive valuable education in special education schools. The social contacts that result from attending school also increase the quality of life of those affected. If the parents of the sick children develop depression or burnout as a result of the additional stress, they turn to a psychological therapist as soon as possible.