Macrodactyly is the name given to a disproportionate enlargement of a single or multiple fingers or toes. The very rare condition may present at birth in a static form or within the first two years of life with a progressive course. There is no known drug treatment, but there are various surgical methods to reduce further growth in size or for partial or total amputation, if desired.
What is macrodactyly?
Macrodactyly can be recognized externally by the fact that one or more fingers or toes show abnormally large growth compared to the rest of the fingers or toes. The unusual size of the affected fingers or toes may either be visible at birth or develop during the first two years of life. In the former case, one speaks of a static and in the latter of a progressive form of progression. In the progressive form of progression, the predisposition is also already present at birth. It is striking that the affected finger or toe shows a proportional enlargement and the abnormal growth in size is not limited to a single or several limbs of the finger or toe. There may be problems with the adjacent fingers or toes, which may have abnormal growth because of the space taken up by the oversized limb. The condition may occur as an isolated malformation or be part of a syndrome. A typical syndrome is the extremely rare Proteus syndrome, which involves large growth of many types of tissues, including skin, bone, muscle, and adipose tissue. The syndrome is not yet visible at birth, but becomes apparent in early childhood.
Causes
The causes of rare macrodactyly are not (yet) clear. It is considered likely that the origin of the malformation falls in the fourth to sixth week of pregnancy. During this time, among other things, the first skeletal structures and the neural tube develop, from which the central nervous system is later formed. It is not (yet) known how this rare malformation can occur during this phase of pregnancy. However, it is known that macrodactyly is congenital but not inherited, so that genetic mutations do not play a role. In some cases, a genetic neurofibromatosis is present at the same time. This is a group of inherited diseases that cause nerve tumors and are inherited in an autosomal dominant manner. Macrodactyly usually occurs on one side only, and the index finger is most commonly affected. It is followed with decreasing frequency by the middle and other fingers. In addition to macrodactyly, other dactyly is known, which is used to describe certain deformities of the fingers or toes.
Symptoms, complaints, and signs
Macrodactyly usually causes few symptoms. The main problem is the limited gripping ability of the hand or the fact that industrially manufactured footwear does not fit for an affected foot. Symptomatic and visible in the disease are the overall proportionally enlarged fingers or toes affected by the disease. However, problems with the joints can develop in the adjacent fingers or toes because they are pushed away from the large limb and are therefore forced into compensatory growth, which is somewhat comparable to a hallux on the big toe. It must be decided on a case-by-case basis whether surgical intervention is necessary.
Diagnosis and course of the disease
If macrodactyly is symptomatic at birth, it is type I according to Barsky. If it is the progressive form that does not become apparent until early childhood, it is Barsky’s type II. A diagnosis of type I can be made relatively easily by x-ray examination. The progressive form cannot yet be detected at birth because no phenotypic or radiographic abnormalities are present. While type I disease progresses proportionally to the growth of the child, in the case of type II, the growth of the affected fingers or toes may be disproportionately progressive. The course of the disease in both cases is largely free of primary complaints. Secondary complaints may result from space occupation of the affected limb. At diagnosis, a number of other forms of partial gigantism should be excluded by differential diagnosis.
Complications
In most cases, macrodactyly does not cause any particular complications or discomfort. Many people live their entire lives with this complaint and do not require medical treatment. This is usually only necessary if there are restrictions in everyday life. Those affected can no longer grasp objects with their hand in the usual way and are therefore restricted in various activities. It is not uncommon for restrictions to occur in the feet or toes. These can also be disproportionately pronounced, resulting in aesthetic discomfort for the patient. In the further course, macrodactyly can also lead to discomfort or pain in the joints. However, medical treatment of these symptoms is not necessary in every case. The treatment of macrodactyly is performed with the help of surgical procedures. Usually, no particular complications or discomfort occur and the treatment itself leads to success. Only in severe cases amputation is necessary. The patient’s life expectancy is usually not affected or reduced by macrodactyly. Psychological treatment may also be necessary if amputation is performed.
When should you see a doctor?
Enlargements of the toes and fingers are indications of an existing health condition that should be examined by a physician. In most patients, the visual changes become apparent immediately after birth. In routine examinations, the nurses or physicians present at an inpatient delivery notice the symptoms and initiate initial medical tests to make a diagnosis. If a birth occurs in a birth center or a home birth, the midwife present will perform the initial examination of the newborn child. If limb irregularities are present, she, as the birth attendant, takes the next steps to provide adequate medical care. Parents do not need to take action in these cases, as they and their offspring are already in the hands of a medically trained staff. If the changes are not noticed by the nursing staff immediately after birth, parents should consult a pediatrician independently afterwards. If the enlargements of the fingers and toes develop only within the first years of the child’s life, a visit to a pediatrician is advisable at the first signs of the irregularities. If the grasping function is limited, if problems with the joints develop during the further growth process or if there are disturbances in mobility, a doctor should be consulted. If the child’s feet do not fit into store-bought shoes, a visit to the doctor is advised.
Treatment and therapy
Treatment of macrodactyly depends on the extent of the disease. Only surgical interventions can be considered as a treatment method. If surgery is planned while the child or adolescent is still growing, epiphysiodesis may be considered first. This is a surgical procedure in which the growth plate (epiphysis) of the corresponding bone is destroyed or bridged. Once growth is complete, this procedure can no longer be used because the epiphysis has closed and per se growth no longer occurs on the bone. In most cases, a partial amputation is performed to restore the necessary freedom of movement to the adjacent fingers or toes. This results in improved gripping ability for the affected hand and an affected foot that fits into a ready-made shoe again if possible. In some cases, the entire finger or toe can be amputated if desired.
Outlook and prognosis
The visual changes in the fingers or toes remain unchanged without medical care. The affected person can only try to compromise with the adversities of everyday life, as spontaneous healing or a change in appearance will not be possible without the cooperation of a physician. In addition, if the disease progresses unfavorably, an increase in symptoms is to be expected. Freedom of movement is restricted and signs of wear and tear may develop. When seeking medical care, treatment options are severely limited. There is the possibility of surgical intervention, which involves partial amputation of the affected areas.A prognosis is only possible on an individual basis, as this depends on the further course of healing as well as the original enlargements of the skeletal system. Impairments of the movement possibilities may occur. However, the goal is to achieve an improvement in grasping function or movement sequences through surgery. In addition, existing discomfort during locomotion should be reduced to a minimum. Physiotherapeutic measures are necessary to support a good health development. The affected person can achieve relief of the complaints himself if he implements the learned exercises in everyday life on his own responsibility. In addition, excess weight should be avoided, for example. This has an unfavorable influence on the skeletal system.
Prevention
Direct preventive measures that would protect against macrodactyly do not exist because the triggering causative factors are not known. However, because the predisposition for the disease is thought to form during the fourth to sixth week of pregnancy, pregnant women can be advised to fastidiously avoid harmful and toxic substances during this critical period of pregnancy. In particular, abstinence from smoking and alcohol, and possibly from heavy coffee consumption, may be considered indirectly effective preventive measures.
Here’s what you can do yourself
Because macrodactyly is a congenital condition, only symptomatic treatment is an option. This surgical procedure, which involves bridging the growth plate of the affected bone, can be aided by typical preoperative measures. For example, the affected person should not drink alcohol or consume other stimulants before the operation. Depending on what the doctor in charge recommends, nothing should be eaten for a few hours before the procedure either. After the procedure, the affected part of the body should be spared. The wound must be cared for according to the doctor’s instructions in order to avoid wound healing disorders, infections and other typical complications. In addition, regular check-ups in the hospital or doctor’s office are indicated. If complaints arise, for example pain or movement disorders, the doctor must be informed immediately. In most cases, a second operation is then necessary. Pain therapy can be supported by classic home remedies such as cool compresses. In consultation with the doctor, homeopathic remedies such as belladonna or arnica are also permitted. In the case of an amputation, the most important measure lies in the acquisition of a suitable orthopedic replacement.
