Diseases

Adams-Oliver Syndrome – Causes, Symptoms & Treatment

Adams-Oliver-Syndrom

Adams -Oliver syndrome is a very rare disease. It is hereditary. The syndrome is characterized by congenital defects of the head and limbs and disorders of the nervous system.

What is Adams-Oliver Syndrome?

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 condition with fewer than 150 documented cases worldwide. The first description of the symptoms dates back to 1945.

It is a hereditary disease . People suffering from Adams-Oliver syndrome suffer from abnormalities and defects in the skin of the skull and extremities. A bony skull defect may also be present. A malformation of the hand or foot skeleton in 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 degrees of expressivity.

Patients with 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, those affected may develop heart disease .

causes

A hereditary genetic defect was identified as the cause of 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 located on the autosome.

In the latest research, scientists also discovered changes in the ARHGAP31 gene. This gene regulates two proteins. Their roles 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 in an autosomal recessive manner. This means that the parents of the sick child do not have 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 from either the mother or the father.

Symptoms, Ailments & Signs

What is striking about 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, a pes cavus , clubfoot or a foot that is too short can occur. Patients often have fingernails or toenails that are too small or missing.

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

There may be damage to the optic nerve or the patient may be squinting . The attachment of the eyeballs was minimal or non-existent in the documented cases. In some patients, Adams-Oliver syndrome leads to complete paralysis of one side of the body, known as hemiplegia.

Hemiparesis , a partial paralysis of the side of the body, is also possible. Occasionally, Adams-Oliver syndrome leads to premature birth . There may also be a congenital heart disease. Occasionally, affected patients have reduced intelligence .

Diagnosis & History

The diagnosis is made by a doctor after birth. It starts with the visual inspection by the doctor. The skullcap and the limbs are inspected. Further measures are then taken.

The EEG measures the brain waves and detects abnormalities. The course of the disease depends on the individual symptom severity and the success of the measures taken. Later on, a genetic test is carried out, which reveals the anomaly of the genes.

complications

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. Prognosis varies depending on treatment.

Due to the defects and abnormalities in the extremities and the skin of the skull, there are disorders that severely affect the lives of the patients. A bony skull defect and malformations of the foot or hand skeleton are characteristic. 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 malformations. These complaints and disorders vary in severity, and they do not have to occur at the same time. A conclusive prognosis with regard to possible improvements in the disease is made even more difficult since Adams-Oliver syndrome is extremely rare and only 45 cases have been documented worldwide to date.

Due to the complicated surgical procedures and individual therapeutic measures, the quality of life of the patients is severely restricted. The further course of the disease also depends on the interdisciplinary cooperation between the doctors, the child and the parents. The better this progresses, the sooner 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 examination is recommended if abnormalities such as wounds in the head area, shortened or missing fingers or toes or a clubfoot, hollow foot or skewed 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 of 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 at the first suspicion of a serious illness.

This is especially true if comparable diseases can be found in the medical history of the parents or grandparents. Parents who themselves suffer from Adams-Oliver syndrome or another hereditary disease should arrange for the child to be examined as soon as possible after the birth. The quicker Adams-Oliver syndrome is detected, the better the chances of successful therapy.

Treatment & Therapy

The treatment of Adams-Oliver syndrome requires close interdisciplinary collaboration between the parents, the child and the physicians. The special challenge here is the treatment of the patient and his relatives. In particular, in addition to the care of the patient, the psychological support and support of 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 no lasting success is achieved. The surgical procedure primarily stabilizes the skullcap. The changes in the extremities represent a very special challenge for the plastic surgeon .

Therefore, the surgical treatment options include split skin and bone transplants 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 are aimed at emotional support as well as the promotion and development of physical abilities. Dealing with the changed physical conditions is trained intensively. In cases of seizures caused by epilepsy, medication is also used.

The aim of this is to minimize cramps. Supportive relaxation techniques are also 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, which mainly occur in the patient’s limbs and head. These malformations can limit the affected person’s everyday life and significantly reduce their quality of life.

In most cases, patients are missing some fingers or nails. The so-called clubfoot also develops, which results in restricted movement and other complications. It is not uncommon for disorders to occur in the nervous system , 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, vision problems and strabismus occur. In some cases, the Adams-Oliver syndrome also leads to reduced intelligence, so that the patient may be dependent 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 cramps and epileptic seizures. Life expectancy is often reduced by Adams-Oliver syndrome.

prevention

As a preventive measure, parents can carry out 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. Prevention is not possible in the patient himself.

Since Adams-Oliver syndrome is a genetic disease, it cannot be treated causally, but only purely symptomatically. Complete healing is therefore not possible, so that the options for aftercare are also very limited. First and foremost, the disease must be treated symptomatically in order to make life easier for those affected and to improve their 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 protect their body. No strenuous activities should be carried out, and sporting activities should also be avoided.

Furthermore, several surgical procedures are usually required to alleviate the majority 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 accelerate the healing of Adams-Oliver syndrome.

In many cases, it is also necessary to take medication, which should be taken regularly. Possible interactions with other medications should also be discussed with a doctor. It is not uncommon for contact with other people affected by Adams-Oliver syndrome to be useful, as this leads to an exchange of information.

aftercare

Since Adams-Oliver syndrome is a genetic disease, it cannot be treated causally, but only purely symptomatically. Complete healing is therefore not possible, so that the options for aftercare are also very limited. First and foremost, the disease must be treated symptomatically in order to make life easier for those affected and to improve their 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 protect their body. No strenuous activities should be carried out, and sporting activities should also be avoided. Furthermore, several surgical procedures are usually required to alleviate the majority 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 accelerate the healing of Adams-Oliver syndrome. In many cases, it is also necessary to take medication, which should be taken regularly.

Possible interactions with other medications should also be discussed with a doctor. Not infrequently, contact with other people affected by Adams-Oliver syndrome can also be useful, as this leads to an exchange of information.

You can do that yourself

Adams-Oliver syndrome requires medical treatment. As soon as parents discover abnormalities in their child – both visually and in behavior – they should consult the pediatrician . The earlier treatment is started, the better the child’s chances of life. Measures that parents can take themselves are based exclusively on the symptoms and can only provide the child with relief of the symptoms.

First and foremost, parents have to come to terms with the difficult situation themselves. Here, an accompanying psychological therapy is highly recommended. 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 , ergotherapy ) at home. A healthy diet , sufficient exercise and plenty of fresh air should be ensured in everyday life. This strengthens the immune system of those affected and reduces the risk of an infectious disease.

The patients – especially in adulthood – are usually unable to manage their everyday life themselves. Therefore, constant care is necessary. Especially with regard to the risk of epileptic seizures, special caution is required so that those affected do not injure themselves. If parents can no longer provide this care themselves, they should not hesitate to seek professional help. This can be done by a carer or by placing the child in an appropriate facility.

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.