The Adams-Oliver Syndrome is a very rare disease. It is hereditary. The syndrome is characterized by congenital defects in the head and limbs and disorders of the nervous system.
What is Adams-Oliver Syndrome?
Adams-Oliver syndrome is a congenital malformation syndrome. It is diagnosed shortly after birth or in childhood. The syndrome is a very rare condition of which there are fewer than 150 documented cases worldwide. The first description of the symptoms is from 1945.
It is a hereditary condition. People suffering from Adams-Oliver syndrome suffer from abnormalities and defects in the skin of the skull and extremities. In addition, there may be a bony skull defect. A malformation of the hand or foot skeleton of one or more limbs is characteristic.
The severity of ectodactyly varies among patients. In addition, vascular malformations can occur. These are congenital malformations of the vascular system with different expressiveness.
Adams-Oliver syndrome sufferers have disorders of the central nervous system and the visual system. Epilepsy, mental and psychomotor disorders or a malformation of the optic nerve are the manifestations. In addition, those affected can develop heart disease.
causes
A genetic hereditary defect was found to be the cause of the Adams-Oliver syndrome. Researchers and scientists used modern DNA technology to detect mutations in the NOTCH1 gene and the DOCK6 gene in several cases. The gene defect is called autosomal dominant because the affected gene is on the autosome.
In the latest research, scientists also discovered changes in the ARHGAP31 gene. This gene regulates two proteins. Their tasks include cell division during growth and movement. The mutation in the gene, according to the results, leads to an interruption in the normal formation and formation of the limbs.
This explains the malformations on the extremities. The genetic defect is inherited as an autosomal recessive trait. This means that the parents of the sick child do not have Adams-Oliver syndrome. However, they act as carriers of the genetic modification that causes the disease and pass it on to their child. The disease can be inherited from both the mother and the father.
Symptoms, ailments & signs
The changes in the extremities are striking in the Adams-Oliver syndrome. In the hand area, there is a malformation of the metacarpal or an uneven shape of the fingers. In the area of the foot, there may be a hollow foot, clubfoot or a foot that is too short. Often patients have too small or missing fingernails or toenails.
The rare hereditary syndrome is characterized by aplasia cutis circumscripta of the scalp, a skin defect of the epidermis and the corium. The manifestations of all the symptoms described are different for each patient. Central nervous system disorders include abnormal EEG, spasticity, or epilepsy.
There may be damage to the optic nerve or the patient may be cross-eyed. The application of the eyeballs was minimal or nonexistent in the documented cases. In some patients, Adams-Oliver syndrome leads to complete paralysis on one side of the body, known as hemiplegia.
Hemiparesis, partial paralysis of the side of the body, is also possible. Occasionally, the Adams-Oliver syndrome leads to premature birth. In addition, there may be a congenital heart disease. Occasionally, the affected patient has a reduced intelligence.
Diagnosis & course
Diagnosis is made by a doctor after the birth. It starts with the visual inspection by the doctor. The skull and the limbs are examined. Further measures are then taken.
The EEG measures the brain waves and detects abnormalities. The course of the disease depends on the individual symptoms and the success of the measures taken. Later, a genetic test is carried out to reveal the abnormality in the genes.
Complications
The Adams-Oliver syndrome is characterized by congenital defects in the limbs and head as well as disorders of the central nervous system, which is why this autosomal dominant inherited malformation syndrome cannot be cured. The prognoses vary depending on the treatment.
Due to the defects and abnormalities in the extremities as well as the skin of the skull, there are disorders that seriously affect the life of the patient. Characteristic are a bony skull defect and malformations of the foot or hand skeleton. In addition, malformations of the vascular system can occur. Partial paralysis on one side of the body is possible.
Additional complaints are heart disease, psychosomatic and mental disorders, epilepsy and malformation of the optic nerve. These complaints and disorders differ in severity and do not have to occur at the same time. A final prognosis with regard to possible improvements in the disease is made even more difficult because the Adams-Oliver syndrome is extremely rare and only 45 cases have been documented worldwide.
The patient's quality of life is severely limited due to the complicated surgical interventions and individual therapeutic measures. The further course of the disease also depends on the interdisciplinary cooperation between the doctors, the child and the parents. The better this goes, the more likely it is that the side effects of the disease can be alleviated to such an extent that at least a slight improvement occurs.
When should you go to the doctor?
If Adams-Oliver syndrome is suspected, a doctor must be consulted in any case. A medical evaluation is recommended if abnormalities such as wounds in the head area, shortened or missing fingers or toes or a clubfoot, arched foot or buckle foot are found in a newborn. Parents who suspect a developmental disorder or observe movement disorders in their child should speak to their pediatrician for further clarification.
Other warning signs for Adams-Oliver syndrome include cleft lips, accessory nipples and similar visual abnormalities. Heart defects, cirrhosis of the liver and double kidneys can also occur. A medical examination is recommended if there is an initial suspicion of a serious illness.
This is especially true if comparable illnesses can be found in the medical history of the parents or grandparents. Parents who suffer from Adams-Oliver syndrome or another hereditary disease should have their child examined as soon as possible after the birth. The faster the Adams-Oliver syndrome is recognized, the better the chances of a successful therapy.
Doctors & therapists in your area
Treatment & Therapy
The treatment of Adams-Oliver syndrome requires close interdisciplinary cooperation between the parents, the child and the doctors. The particular challenge here is the treatment of the patient and their relatives. In particular, in addition to caring for the patient, psychological accompaniment and support for the parents are essential for the success of the patient's therapy.
If the scalp is damaged, the patient is operated on. In many cases this procedure has to be repeated until there is no lasting success. The surgical intervention primarily stabilizes the skullcap. The changes to the extremities represent a very special challenge for the plastic surgeon.
Therefore, surgical therapy options include split-thickness skin and bone grafts as well as local and free flaps. As a rule, several operations are carried out during childhood. In addition, individual therapeutic measures are taken depending on the individual symptoms.
These aim at emotional support as well as the promotion and development of physical possibilities. Dealing with the changed physical conditions is intensively trained. In cases of convulsions caused by epilepsy, there is also medical support.
The aim of this is to minimize cramps. In addition, supportive relaxation techniques are taught. If the optic nerve is damaged or if a heart condition is diagnosed, further individual measures are taken.
Outlook & forecast
The Adams-Oliver syndrome leads to various defects and malformations that occur primarily on the limbs and head of the patient. These malformations can limit the everyday life of the person affected and significantly reduce the quality of life.
In most cases, patients are missing some fingers or nails. The so-called clubfoot also develops, which results in restricted mobility and other complications. It is not uncommon for disorders of the nervous system to occur, which can lead to paralysis or spasticity. Epileptic seizures are also not uncommon and, in the worst case, can lead to an accident or death.
If the optic nerve is also damaged, visual disturbances and strabismus occur. In some cases, the Adams-Oliver syndrome also leads to a reduced intelligence, so that the patient may have to rely on the help of other people in everyday life.
Treatment is only symptomatic and can limit the symptoms. However, not all malformations and defects can be treated. The focus is also on minimizing convulsions and epileptic fits. Adams-Oliver syndrome often reduces life expectancy.
prevention
As a preventive measure, parents can do a genetic test. In this way it can be determined whether they are carriers of a genetic defect that could possibly lead to the disease if passed on. No prevention is possible for the patient himself.
Since Adams-Oliver syndrome is a genetic disease, it cannot be treated causally, but only symptomatically. A complete cure is therefore not possible, so that the options for aftercare are only possible to a very limited extent.First and foremost, the disease must be treated symptomatically in order to make life easier for the person affected and to improve the quality of life again.
As a rule, the malformations are primarily treated with the help of surgical interventions. After these procedures, the person concerned should always rest and take care of his body. In doing so, no strenuous activities should be carried out, and sporting activities should also be avoided.
Furthermore, several surgical interventions are usually required to alleviate most of the symptoms. Those affected are also dependent on physiotherapy, whereby the exercises from the therapy can also be carried out at home. This can speed up the healing of Adams-Oliver syndrome.
In many cases it is also necessary to take medication, whereby regular intake should be ensured. Possible interactions with other drugs should also be discussed with a doctor. It is not uncommon for people to be in contact with other sufferers of Adams-Oliver syndrome, as this leads to an exchange of information.
Aftercare
Since Adams-Oliver syndrome is a genetic disease, it cannot be treated causally, but only symptomatically. A complete cure is therefore not possible, so that the options for aftercare are only possible to a very limited extent. First and foremost, the disease must be treated symptomatically in order to make life easier for the person affected and to improve the quality of life again.
As a rule, the malformations are primarily treated with the help of surgical interventions. After these procedures, the person concerned should always rest and take care of his body. In doing so, no strenuous activities should be carried out, and sporting activities should also be avoided. Furthermore, several surgical interventions are usually required to alleviate most of the symptoms.
Those affected are also dependent on physiotherapy, whereby the exercises from the therapy can also be carried out at home. This can speed up the healing of Adams-Oliver syndrome. In many cases it is also necessary to take medication, whereby regular intake should be ensured.
Possible interactions with other drugs should also be discussed with a doctor. It is not uncommon for people to be in contact with other sufferers of Adams-Oliver syndrome, as this leads to an exchange of information.
You can do that yourself
The Adams-Oliver syndrome requires urgent medical treatment. As soon as parents discover abnormalities in their child - both visually and in behavior - they should visit the pediatrician. The earlier treatment is started, the better the child's chances in life. Measures that parents can take themselves are based solely on the symptoms and can only provide the child with relief from the symptoms.
First and foremost, parents have to come to terms with the difficult situation themselves. An accompanying psychological therapy is very advisable here. If the parents are psychologically stable, they can provide their child with much-needed support. With a lot of love and patience, parents should repeat the exercises taught by the various therapists (physiotherapy, speech therapy, occupational therapy) at home. A healthy diet, sufficient exercise and plenty of fresh air must be ensured in everyday life. This strengthens the immune system of the person affected and reduces the risk of an infectious disease.
The patients - especially in adulthood - can usually not cope with their everyday life themselves. Therefore constant supervision is necessary. Particular caution is required with regard to the risk of epileptic seizures so that those affected do not injure themselves. If parents are no longer able to provide this care themselves, they should not be afraid to seek professional help. This can be done by a carer or the child can be placed in an adequate facility.
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