Adams-Oliver syndrome is a very rare condition. She is hereditary. The syndrome is characterized by congenital defects of the head and limbs, as well as nervous system disorders.

What is the Adams-Oliver syndrome?

Adams-Oliver syndrome is a hereditary disease. Diseased people suffer from abnormalities and defects in the skull and extremities.

Adams-Oliver syndrome is one of the congenital malformation syndromes. It is diagnosed shortly after birth or in childhood. The syndrome is a very rare disease, of which there are fewer than 150 documented cases worldwide. The first description of the symptoms dates back to 1945.

It is a hereditary disease. People with Adams-Oliver syndrome suffer from abnormalities and defects in the skull and extremities. In addition, there may be a bony skull defect. Characteristic is a malformation of the hand or foot skeleton one or more limbs.

The severity of ectodactyly varies among patients. In addition, it can lead to vascular malformations. These are congenital malformations of the vascular system with different expressivity.

Patients suffering from Adams-Oliver syndrome 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, it can lead to heart disease in those affected.

causes

The cause of Adams-Oliver syndrome was a genetic genetic defect. Researchers and scientists have identified mutations in the NOTCH1 gene and the DOCK6 gene in several cases using modern DNA technology. The gene defect is called autosomal dominant, because the affected gene is located on the autosome.

In addition, scientists have discovered changes in the ARHGAP31 gene in recent research. 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 of the normal training 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 are not suffering from Adams-Oliver syndrome. However, they act as carriers of the disease-causing gene mutation and pass it on to their child. The disease can be inherited both from the mother and from the father.

Symptoms, complaints & signs

Striking in Adams-Oliver syndrome are the changes in the extremities. In the hand area there is a malformation of the metacarpus or an uneven shape of the fingers. In the foot area, it can lead to a hollow foot, Clubfoot or too short a foot. Often patients have too small to missing finger or toenails.

The rare hereditary syndrome is characterized by aplasia cutis circumscripta of the scalp, a skin defect of the epidermis and corium. The manifestations of all symptoms described are different for each patient. Disturbances of the central nervous system include abnormal EEG, spasticity or epilepsy.

There may be damage to the optic nerve or the patient is switching. The application of the eyeballs has been minimal or absent in the documented cases. In some patients, Adams-Oliver syndrome leads to complete paralysis of one side of the body, hemiplegia.

Likewise, a hemiparesis, a partial paralysis of the body side is possible. Occasionally there is a premature birth in the Adams-Oliver syndrome. Furthermore, there may be a congenital disease of the heart. Occasionally, the intelligence is reduced in the affected patients.

Diagnosis & History

The diagnosis takes place after birth by a physician. Begin with the visual inspection by the doctor. The skull and limbs are inspected. Subsequently, further measures will be 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 will be performed to show the anomaly of the genes.

complications

Adams-Oliver syndrome is characterized by congenital defects in the limbs and head, as well as central nervous system disorders, so this autosomal dominant inherited malformation syndrome is not curable. The prognoses vary depending on the treatment.

Defects and abnormalities of the extremities and cranial skin cause disorders that severely affect patients' lives. Characteristic features are a bony skull defect and malformations of the foot or hand skeleton. In addition, malformations of the vascular system can occur. Partial paralysis of one side of the body is possible.

Additional complaints include heart disease, psychosomatic and mental disorders, epilepsy and optic nerve malformation. These complaints and disorders are different pronounced, and these do not have to occur simultaneously. A final prognosis for possible improvements of the disease is further complicated, because the Adams-Oliver-Syndrome is extremely rare and so far only 45 cases are documented worldwide.

Due to the complicated surgical interventions and individual therapeutic measures, the quality of life of patients is severely limited. The further course of the disease is also dependent on the interdisciplinary cooperation between the doctors, the child and the parents. The better this runs, the sooner the accompanying symptoms of the disease can be mitigated to the extent that at least a slight improvement occurs.

When should you go to the doctor?

In case of suspected Adams-Oliver syndrome, 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 lump, hollow or kink foot are detected in a newborn. Parents who suspect a developmental disorder or who observe movement disorders in their child should speak to the pediatrician for further clarification.

Other warning signs of Adams-Oliver syndrome include cleft lip, accessory nipples and similar visual abnormalities. In addition, heart defects, liver cirrhosis and double kidney can occur. A medical check-up is recommended even with a first suspicion of a serious illness.

This is especially true if comparable medical conditions 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 baby examined as soon as possible after birth. The faster the Adams-Oliver syndrome is recognized, the better the chances of a successful therapy.

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Treatment & Therapy

The treatment of Adams-Oliver syndrome requires close interdisciplinary collaboration between the parents, the child and the doctors. The special challenge here is the treatment of the patient and his relatives. In particular, the psychological support and support of the parents are essential for the therapy success of the patient on the care of the patient.

Damage to the scalp causes the patient to undergo surgery. In many cases, this procedure must be repeated until there is no sustained success. The surgery primarily stabilizes the skullcap. The changes in the extremities pose a special challenge to the plastic surgeon.

Therefore, surgical options include split-skin and bone grafting, as well as local and free flap surgery. As a rule, several operations are performed during childhood. In addition, individual therapeutic measures are taken concomitantly depending on the individual symptoms.

These aim at emotional support as well as promotion and development of physical possibilities. Dealing with the changed physical conditions is intensively trained. In cases of epileptic spasms, there is additional medical support.

This has the goal of minimizing convulsions. 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

Adams-Oliver syndrome causes various defects and malformations that occur primarily on the patient's limbs and head. These malformations can limit the daily life of the person affected and significantly reduce the quality of life.

In most cases, the patient lacks some fingers or nails. Likewise, there is the formation of the so-called clubfoot, which results in movement restrictions and other complications. Not infrequently, disorders of the nervous system occur, which can lead to paralysis or spasticity. Even epileptic seizures are not rare and can lead to an accident or death in the worst case.

If the optic nerve is also damaged, there are visual disturbances and strabismus. In some cases, Adams-Oliver syndrome also reduces intelligence, so the patient may need help from other people in their everyday lives.

The treatment is symptomatic only and can reduce the symptoms. However, not all malformations and defects can be treated. The focus is also on minimizing convulsions and epileptic seizures. Life expectancy is often reduced by Adams-Oliver syndrome.

prevention

As a preventive measure, parents can perform a genetic test. In this way, it can be determined whether they are carriers of a genetic defect, which could possibly lead to the disease in the case of the further transmission. For the patient himself, no prevention is possible.

Since Adams-Oliver syndrome is a genetic disease, it can not be treated causally, but only symptomatically. A complete cure is therefore not possible, so that opportunities for follow-up only very limited possible. First and foremost, the disease must be treated symptomatically in order to facilitate the life of the person affected and to increase the quality of life again.

As a rule, the malformations are primarily treated by means of surgical interventions. After these procedures, the affected person should always rest and spare his body. No strenuous activities should be carried out, although sport activities should also be foreseen.

Furthermore, multiple surgical procedures are usually required to relieve most of the symptoms. Likewise, those affected are dependent on physiotherapy, whereby the exercises from the therapy can also be performed in the home. This can speed up the healing of Adams-Oliver syndrome.

In many cases, it is also necessary to take medicines, whereby regular use should be ensured. Also possible drug interactions should be discussed with a doctor. Not infrequently, the contact with other sufferers of the Adams-Oliver syndrome may be useful, as it comes to an exchange of information.

aftercare

Since Adams-Oliver syndrome is a genetic disease, it can not be treated causally, but only symptomatically. A complete cure is therefore not possible, so that opportunities for follow-up only very limited possible. First and foremost, the disease must be treated symptomatically in order to facilitate the life of the person affected and to increase the quality of life again.

As a rule, the malformations are primarily treated by means of surgical interventions. After these procedures, the affected person should always rest and spare his body. No strenuous activities should be carried out, although sport activities should also be foreseen. Furthermore, multiple surgical procedures are usually required to relieve most of the symptoms.

Likewise, those affected are dependent on physiotherapy, whereby the exercises from the therapy can also be performed in the home. This can speed up the healing of Adams-Oliver syndrome. In many cases, it is also necessary to take medicines, whereby regular use should be ensured.

Also possible drug interactions should be discussed with a doctor. Not infrequently, the contact with other sufferers of the Adams-Oliver syndrome may be useful, as it comes to an exchange of information.

You can do that yourself

The Adams Oliver Syndrome requires mandatory medical treatment. As soon as parents discover abnormalities in their child - both visually and in behavior - they should consult the pediatrician. The earlier a treatment is started, the better the life chances of the child. 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. Here an accompanying psychological therapy is highly recommended. If the parents are mentally stable, they can be a much needed support for their child. With much love and patience parents should repeat at home the mediated with the different therapists (physiotherapy, speech therapy, occupational therapy) exercises. On a healthy diet, exercise and plenty of fresh air is important 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 - usually can not handle their everyday life themselves. Therefore, a constant care is necessary. Especially with regard to the risk of epileptic seizures, special care should be taken 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 caregiver or the placement of the child in an adequate facility.

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