Adams-Oliver syndrome is a very rare condition. It is hereditary. The syndrome is characterized by congenital defects of the head and limbs and nervous system disorders.
What is Adams-Oliver syndrome?
Adams-Oliver syndrome is an inherited disorder. People with the disease suffer from abnormalities and defects in the skull skin as well as the extremities. Adams-Oliver syndrome is one of the congenital malformation syndromes. It is diagnosed shortly after birth or in infancy. The syndrome is a very rare condition, with fewer than 150 documented cases worldwide to date. The first description of the symptoms dates back to 1945, and it is an inherited disorder. People suffering from Adams-Oliver syndrome suffer from abnormalities and defects of the skull skin as well as the extremities. In addition, a bony skull defect may be present. Characteristic is a malformation of the skeleton of the hand or foot one or more limbs. The severity of ectodactyly varies among patients. In addition, vascular malformations may occur. These are congenital malformations of the vascular system with varying expressivity. Disorders of the central nervous system as well as the visual system are present in sufferers of Adams-Oliver syndrome. Epilepsy, mental and psychomotor disorders or malformation of the optic nerve are the manifestations. In addition, affected individuals may develop heart disease.
Causes
A genetic inherited defect has been identified as the cause of Adams-Oliver syndrome. Researchers and scientists detected mutations in the NOTCH1 gene and the DOCK6 gene in several cases using modern DNA technology. The genetic defect is called autosomal dominant because the affected gene is located on the autosome. In recent research, scientists also discovered alterations in the ARHGAP31 gene. This gene regulates two proteins. Their functions include cell division during growth and movement. The mutation in the gene, according to the results, leads to a disruption of the normal formation and emergence of limbs. This explains the malformations of the extremities. The gene defect is inherited autosomal recessively. This means that the parents of the affected 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, complaints, and signs
Noticeable in Adams-Oliver syndrome are the changes in the extremities. In the hand area, there is a deformity in the metacarpus or an uneven shape of the fingers. In the foot area, there may be a hollow foot, club foot or a foot that is too short. 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 the corium. The manifestations of all described symptoms are different in each patient. Central nervous system disorders include a prominent EEG, spasticity, or epilepsy. There may be damage to the optic nerve or the patient may be cross-eyed. The apposition of the eyeballs has been minimal or absent in documented cases. In some patients, Adams-Oliver syndrome results in complete paralysis of one side of the body, hemiplegia. Likewise, hemiparesis, partial paralysis of one side of the body, is possible. Occasionally, Adams-Oliver syndrome causes premature birth. Furthermore, a congenital disease of the heart may be present. Occasionally, intelligence is decreased in affected patients.
Diagnosis and course
Diagnosis takes place after birth by a medical professional. It is started with visual inspection by the physician. The top of the skull as well as the limbs are examined. Subsequently, further measures are taken. The EEG measures the brain waves and detects abnormalities. The course of the disease depends on the individual symptom expression as well as the success of the measures taken. In the later course, a genetic test is performed, which reveals the abnormality of the genes.
Complications
Adams-Oliver syndrome is characterized by congenital defects of the limbs and head and disorders of the central nervous system; therefore, this autosomal-dominant inherited malformation syndrome is not curable. Prognosis varies depending on the treatment. Due to the defects and abnormalities of the extremities as well as the cranial skin, there are disturbances that severely affect the life of the patients. Characteristic are a bony skull defect as well as malformations of the foot or hand skeleton. In addition, malformations of the vascular system may occur. Partial paralysis of one side of the body is possible. Additional complaints are heart diseases, psychosomatic and mental disorders, epilepsy and malformation of the optic nerve. These complaints and disorders vary in severity, nor do they have to occur simultaneously. A conclusive prognosis regarding possible improvements of the disease is further complicated because Adams-Oliver syndrome is extremely rare and only 45 cases have been documented worldwide to date. Due to the complicated surgical procedures and individual therapy measures, the patients’ quality of life is severely limited. 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 more likely it is that the accompanying symptoms of the disease can be mitigated 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. Medical clarification is recommended if abnormalities such as sores in the head area, shortened or missing fingers or toes, or a club foot, hollow foot, or bent foot are noticed in a newborn. Parents who suspect a developmental disorder or observe movement abnormalities in their child should talk to their pediatrician for further evaluation. Other warning signs of Adams-Oliver syndrome include cleft lip, accessory nipples and similar visual abnormalities. In addition, heart defects, cirrhosis of the liver and double kidneys may occur. A medical clarification is recommended already at the first suspicion of a serious disease. This is especially true if comparable diseases are found in the medical history of 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 birth. As a rule, the sooner Adams-Oliver syndrome is detected, the better the prospects for successful therapy.
Treatment and therapy
Treatment of Adams-Oliver syndrome requires close interdisciplinary cooperation between the parents, the child, and the physicians. The particular challenge here is the treatment of the patient as well as his or her relatives. In particular, beyond the care of the patient, the psychological accompaniment and support of the parents are essential for the therapeutic success of the patient. In the case of damage to the scalp, the patient undergoes surgery. In many cases, this procedure must be repeated until there is no lasting success. The surgical intervention primarily stabilizes the skull. The changes in the extremities present a very special challenge to the plastic surgeon. Therefore, surgical therapy options include split skin and bone grafting as well as local and free flap plastic surgery. As a rule, several operations are performed during childhood. In addition, individual therapeutic measures are taken depending on the individual symptoms. These aim at emotional support as well as promotion and development of the physical possibilities. Dealing with the changed physical conditions is intensively trained. In cases of seizure disorders caused by epilepsy, additional support is provided in the form of medication. The aim of this is to minimize the convulsions. Supportive relaxation techniques are also taught. If there is damage to the optic nerve or if a heart condition is diagnosed, further individual measures are taken.
Outlook and prognosis
Adams-Oliver syndrome results in various defects and malformations that occur mainly in the patient’s limbs and head.These deformities can restrict the daily life of the affected person and significantly reduce the quality of life. In most cases, patients are missing some fingers or nails. They also develop the so-called clubfoot, which results in restricted movement 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, Adams-Oliver syndrome also results in 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 convulsions and epileptic seizures. Life expectancy is often reduced by Adams-Oliver syndrome.
Prevention
As a preventive measure, parents can perform genetic testing. This can be used to determine whether they are carriers of a genetic defect that could possibly lead to the disease if passed on. No prevention is possible in the patient himself. Since Adams-Oliver syndrome is a genetic disease, it cannot be treated causally, but only symptomatically. Therefore, a complete cure is not possible, so that there are also only very limited possibilities for aftercare. First and foremost, the disease must be treated symptomatically in order to make the life of the affected person easier and to improve the quality of life again. As a rule, the malformations are primarily treated with the help of surgical interventions. After these interventions, the affected person should always rest and take care of his body. No strenuous activities should be performed, and sporting activities should also be refrained from. Furthermore, several surgical interventions are usually required to alleviate most of the discomfort. Likewise, sufferers are dependent on physical therapy, although the exercises from the therapy can also be performed in the patient’s own home. This can speed up the healing of Adams-Oliver syndrome. In many cases, it is also necessary to take medication, and care should be taken to ensure that it is 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.
Aftercare
Because Adams-Oliver syndrome is a genetic disorder, it cannot be treated causally, only symptomatically. Therefore, a complete cure is not possible, so options for follow-up care are also very limited. First and foremost, the disease must be treated symptomatically in order to make the life of the affected person easier and to improve the quality of life again. As a rule, the malformations are primarily treated with the help of surgical interventions. After these interventions, the affected person should always rest and take care of his body. No strenuous activities should be performed, and sporting activities should also be refrained from. Furthermore, several surgical interventions are usually required to alleviate most of the discomfort. Likewise, sufferers are dependent on physical therapy, although the exercises from the therapy can also be performed in the patient’s own home. This can speed up the healing of Adams-Oliver syndrome. In many cases, it is also necessary to take medication, and care should be taken to ensure that it is 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.
What you can do yourself
Adams-Oliver syndrome requires mandatory medical treatment. As soon as parents discover abnormalities in their child – both visually and in behavior – they should see the pediatrician. The earlier treatment is started, the better the child’s chances in life.Measures that parents can take themselves are based exclusively on the symptoms and can only provide the child with relief from the discomfort. First and foremost, parents themselves must come to terms with the aggravating situation. Here, an accompanying psychological therapy is highly recommended. If the parents are psychologically stable, they can be the much-needed support for their child. With a lot of love and patience, parents should repeat at home the exercises taught by the various therapists (physiotherapy, speech therapy, occupational therapy). Attention should be paid to a healthy diet, sufficient exercise and plenty of fresh air in everyday life. This strengthens the immune system of the affected person and reduces the risk of an infectious disease. Patients – especially in adulthood – are usually unable to manage their daily lives themselves. Therefore, constant care is necessary. Particular care is required, especially with regard to the risk of epileptic seizures, so that those affected do not injure themselves. If parents can no longer provide this care themselves, they should not be afraid to seek professional help. This can be provided by a caregiver or by placing the child in an adequate facility.
