Ectrodactyly is a skeletal deformity of the hands or feet. The condition is often genetic and exists from birth in affected individuals. In the context of ectrodactyly, the affected patients show mutilations of the fingers or feet. In numerous cases, fingers or individual toes are missing. This often results in the appearance of a so-called split hand or split foot.
What is ectrodactyly?
In many cases, ectrodactyly is genetically caused and then occurs in association with various syndromes. For example, associations with malformations of the eyes, nystagism, and Karsch-Neugebauer syndrome are seen. It is also possible that the ectrodactyly occurs together with the Gollop-Wolfgang syndrome, where a femoral bifurcation and a hand ectrodactyly are present on one side. In addition, there are links to Jancar syndrome as well as the so-called ADULT syndrome. This is an anomaly in the skeletal anatomy of the feet or hands that is relatively rare. The prevalence of ectrodactyly ranges in an estimated spectrum from 1:1,000,000 to 9:1,000,000. Different types of disease inheritance and different manifestations of ectrodactyly exist that are not related to syndromes. Ectrodactyly sometimes occurs as a single symptom. Ectrodactyly is also referred to synonymously by some physicians as split hand-split foot malformation. The deformity primarily affects the so-called medial rays of the hands and feet.
Causes
Ectrodactyly forms as a result of various triggers. Depending on the patient, different factors are responsible for the development of the anomaly. In general, ectrodactyly is a genetic condition. This means that mutations on specific genes are responsible for the disease genesis. In such cases, the symptoms exist from birth. According to the current state of medical research, five gene loci are known whose mutations cause ectrodactyly. The modes of inheritance are either autosomal dominant or X-linked recessive.
Symptoms, complaints, and signs
Ectrodactyly presents with various symptoms, but all are very typical of the condition. In most cases, affected patients exhibit a combination of syndactyly and oligodactyly, with the feet or hands having a median cleft. For this reason, the visual appearance of the affected hands or feet resembles the claws of crayfish. The two parts next to the middle cleft are opposable to each other. The typical malformations sometimes only appear on one hand or foot. In some cases, however, all extremities are affected by the malformations. Syndactyly in connection with a so-called oligodactyly results in a crab-scissors hand. In this case, there is a clear middle cleft on the affected hands or feet. Ectrodactyly is associated in some cases with aniridia, hearing loss, and Alport syndrome.
Diagnosis
When the presence of ectrodactyly is suspected due to characteristic signs of the disease, medical advice is required. Affected individuals first contact their general practitioner. The latter refers the patient to a specialized physician as needed. The first step in establishing the diagnosis is always a conscientious anamnesis, which the attending physician conducts with the affected person. The patient is asked to describe his or her complaints as well as the circumstances and time of onset of the symptoms as precisely as possible. In addition, the physician analyzes the lifestyle habits of the respective person in order to form a picture of potential risk factors. In the case of genetic diseases such as ectrodactyly, the family history also plays a decisive role. If cases of the disease have already appeared in the family, the suspicion of the disease is strengthened. Once the patient interview is complete, the attending physician performs a series of clinical examinations. Since ectrodactyly is a skeletal deformity, diagnostic imaging techniques are primarily used. As a rule, the physician performs X-ray examinations of the affected hands and feet.The characteristic malformations of the bone anatomy are usually already clearly recognizable. The diagnosis of ectrodactyly can be made with relative certainty by means of a genetic analysis of the affected person. This is because in this way the mutations are detectable at the known gene loci.
Complications
Patients with ectrodactyly mainly suffer from various malformations of the feet and fingers. Because of this deformity, children in particular are teased or bullied. The patient’s mobility is severely limited, and in many cases it is also not possible to use the fingers in a normal way, resulting in restrictions in everyday life. The quality of life is also greatly reduced by ectrodactyly. However, it cannot be predicted whether all extremities are affected by the deformities. Often, the affected persons also suffer from hearing loss and are thus dependent on a hearing aid in everyday life. In the case of severe malformations, it is often not possible for the patient to cope with everyday life on his own, so that he is dependent on the help of other people. The restricted freedom of movement can lead to depression in many people. Many deformities can be corrected by surgical intervention. It is also possible to insert prostheses. As a result, there are no further complications and the quality of life of the affected person is increased again. Therapies can also restore motor skills.
When should you see a doctor?
Usually, ectrodactyly is diagnosed before or immediately after birth. For this reason, an additional diagnosis is no longer necessary in most cases. However, the affected person should see a doctor if the malformations on the skeleton cause various complaints and restrictions in the patient’s everyday life. If the complaints are treated at an early stage, they can usually be limited. The visit to the doctor is especially necessary if the development of the child is also disturbed or significantly delayed by the ectrodactyly. Unfortunately, this disease often leads to teasing or bullying, so a visit to a psychologist is also advisable. Furthermore, a doctor should also be consulted if the patient suffers from hearing loss. As a rule, the complaints are alleviated by surgical interventions. These take place in a hospital. Hearing loss can usually be treated by an ENT doctor with the help of a hearing aid. Furthermore, however, patients are dependent on regular medical examinations.
Treatment and therapy
There are various options available for the therapy of ectrodactyly, which are used depending on the individual case. The typical deformities of the hands or feet can be corrected by surgical procedures. In addition, prostheses may be used to improve the functions of the hand and foot. In numerous cases, however, it is not necessary from a functional perspective to treat or correct ectrodactyly. This is because, despite ectrodactyly, many patients have a high degree of mobility of the hands and feet as well as sufficient motor skills to cope with their everyday lives in a self-determined manner. In principle, a medical checkup is advisable.
Outlook and prognosis
Ectrodactyly can usually be treated by surgical intervention. The outlook for recovery is good if the patient has the necessary surgical procedures performed early. If the condition is not treated until adolescence or adulthood, deformities, joint wear, and other complications have usually already developed. These can be treated symptomatically, such as with pain medication and further surgical interventions. Nevertheless, if treatment is delayed, symptoms will always persist, permanently limiting the quality of life and well-being of the affected person. Life expectancy is not reduced by a single ectrodactyly. However, the malformations increase the risk of diseases of the vessels, joints and bones, for example circulatory disorders or infections. The malformations are also perceived as a visual blemish by those affected and can cause psychological discomfort. Therapy can reduce depressive moods and other mental suffering and thus improve the prognosis.If the disease occurs in combination with other malformation syndromes such as Karsch-Neugebauer syndrome or femoral bifurcation, the prognosis is worse. Often there are then further complaints of the organs or the joints, which progress progressively and reduce life expectancy. A final prognosis can be made by the competent physician, who will consider the course of the disease and any risk factors for this purpose.
Prevention
In the majority of cases, ectrodactyly represents a congenital disease whose causes lie in gene mutations. In this regard, the disease cannot be prevented effectively in principle. Currently, numerous medical studies are working on researching feasible ways to prevent genetic diseases.
Follow-up
In most cases of ectrodactyly, proper treatment by a doctor is necessary. Since it is a hereditary disease, the measures or possibilities of aftercare are very limited. The affected person is therefore primarily dependent on a quick recognition and treatment of the disease, so that it does not lead to further complaints or complications. A physician should therefore be consulted at the first sign of ectrodactyly. If the patient has a desire to have children, genetic counseling or diagnosis can also be performed to prevent inheritance of ectrodactyly to descendants. It cannot be universally predicted whether the disease will result in a decreased life expectancy for the affected individual. In general, loving care and support of the affected person has a positive effect on the course of the disease. Most patients are dependent on the help of their fellow human beings in everyday life. Contact with other affected people can also be useful and lead to an exchange of information. In addition, physiotherapy can prove useful to increase the mobility of the joints again.
What you can do yourself
In the vast majority of cases, ectrodactyly is a congenital condition. Patients cannot take steps to treat it causally. Affected individuals should make sure that they or their child receives care from a specialist. Very often, even if they suffer from malformations of the hands and feet, those affected have no problems coping with everyday life. However, the deformities have a disfiguring effect and therefore lead to psychological and social problems. In many patients, mobility is also limited or the ability to grasp things is impaired, so that everyday tasks cannot be performed or writing cannot be learned. In these cases, it is imperative that those affected consult a specialist to determine whether the malformations can be corrected or at least improved by surgical intervention. Even if the motor function is not impaired, a purely cosmetic intervention may be necessary if the affected person suffers emotionally from the malformation and the accompanying disfigurement. In these cases, psychotherapy can also be helpful. Parents of affected children, who are often teased or bullied by their peers, should seek psychological care in time to prevent late damage.
