According to Acronymmonster, macrodactyly is a disproportionate enlargement of one or more fingers or toes. The very rare disease can present itself at birth in a static form or within the first two years of life with a progressive course. Drug treatment is not known, but there are various surgical methods to reduce further growth or for partial or total amputation, if desired.
What is macrodactyly?
Externally, macrodactyly can be recognized by the fact that one or more fingers or toes show unusually strong growth compared to the other fingers or toes. The extraordinary size of the affected fingers or toes can either be apparent at birth or develop over the course of the first two years of life.
In the first case one speaks of a static and in the latter of a progressive course form. Even with the progressive form, the condition is already present at birth. It is noticeable that the affected finger or toe shows a proportional enlargement and the abnormal growth in size is not limited to a single or multiple phalanges of the finger or toe.
There may be problems with the adjacent fingers or toes, which may exhibit malgrowth due to the space requirements of the oversized limb. The disease can occur as an isolated malformation or be part of a syndrome. A typical syndrome is the extremely rare Proteus syndrome, which involves an overgrowth of many tissue types such as skin, bone, muscle and adipose tissue. The syndrome is not visible at birth but only becomes apparent in early childhood.
The causes of the rare macrodactyly have not (yet) been clarified. It is considered probable that the origin of the malformation falls in the fourth to sixth week of pregnancy. During this time, among other things, the first skeletal systems and the neural tube, from which the central nervous system is later formed, develop.
It is not (yet) known how this rare misalignment can occur during this phase of pregnancy. However, it is a proven fact that macrodactyly is congenital but not inherited, so that gene mutations play no role. In some cases, a genetic neurofibromatosis is present at the same time.
It is a group of hereditary diseases that cause nerve tumors and are inherited in an autosomal dominant manner. Macrodactyly is usually unilateral, and the index finger is most commonly affected. The middle and other fingers follow with decreasing frequency. In addition to macrodactyly, other dactylies are known, which are used to describe certain malpositions of the fingers or toes.
Symptoms, Ailments & 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 an affected foot. Symptomatic and visible in the disease are the overall proportionally enlarged fingers or toes affected by the disease.
Adjacent fingers or toes, however, can develop joint problems because they are pushed away from the large limb and are therefore forced to grow compensatorily, somewhat akin to a big toe hallux. A decision must be made on a case-by-case basis as to whether an operative measure is required.
Diagnosis & course of disease
If macrodactyly is already symptomatic at birth, it is Barsky type I. If it is the progressive form, which does not appear until early childhood, it is Barsky type II. A type I diagnosis can be made relatively easily with an X-ray examination.
The progressive form cannot be recognized at birth because there are no phenotypic or radiological abnormalities. While Type I disease is proportional to the child’s growth, in Type II the growth of the affected fingers or toes may be disproportionately progressive.
In both cases, the course of the disease is largely free of primary symptoms. Secondary complaints can arise from the space requirements of the affected limbs. When making the diagnosis, a number of other forms of partial gigantism should be excluded in the differential diagnosis.
In most cases, there are no particular complications or discomfort due to macrodactyly. Many people live with this condition their entire lives and do not require medical treatment. This is usually only necessary if there are restrictions in everyday life. Those affected can no longer grip objects in the usual way with their hands and are therefore restricted in various activities.
It is not uncommon for there to be restrictions on the feet or toes. These can also be disproportionately pronounced, resulting in aesthetic problems for the patient. As it progresses, macrodactyly can also lead to discomfort or pain in the joints. However, medical treatment of these symptoms is not always necessary.
Treatment of macrodactyly is carried out with the help of surgical intervention. As a rule, there are no particular complications or symptoms and the treatment itself is successful. Amputation is only necessary in severe cases. The life expectancy of the patient is usually not affected or reduced by macrodactyly. In the case of an amputation, psychological treatment may also be necessary.
When should you go to the doctor?
Enlarged toes and fingers are indications of an existing health impairment that should be examined by a doctor. In most patients, the visual changes become apparent immediately after birth. In routine examinations, the nurses or doctors present notice the symptoms of an inpatient delivery and initiate the first medical tests for a diagnosis. If the birth takes place in a birth center or at home, the midwife present will carry out the initial examination of the newborn child. If there are irregularities in the limbs, she takes on the next steps as an obstetrician to ensure adequate medical care.
Parents do not have to take action in these cases, as they and their offspring are already in the hands of medically trained staff. If the changes are not noticed by the nursing staff immediately after the birth, the parents should then consult a pediatrician independently. If the enlargement of the fingers and toes only develops within the child’s first years of life, a visit to a pediatrician is advisable at the first signs of irregularities. If the gripping function is restricted, problems with the joints develop as the growth process continues, or mobility problems occur, a doctor should be consulted. If the child’s feet do not fit in commercially available shoes, it is advisable to consult a doctor.
Treatment & Therapy
Treatment of macrodactyly depends on the extent of the disease. Surgical interventions are the only possible treatment method. If an operation is planned while the child or adolescent is still growing, an epiphyseodesis can be considered first.
It is a surgical procedure in which the growth plate (epiphysis) of the corresponding bone is destroyed or bridged. Once the growth is complete, this procedure can no longer be used because the epiphysis has closed and the bone no longer grows per se. In most cases, a partial amputation is performed to give the adjacent fingers or toes the freedom of movement they need.
This results in improved gripping ability for the affected hand and an affected foot that can fit back into a ready-made shoe if possible. In some cases, the entire finger or toe can also be amputated if desired.
Outlook & Forecast
The optical changes in the fingers or toes remain unchanged without medical care. The person affected can only try to find compromises with the adversities of everyday life, since spontaneous healing or a change in appearance will not be possible without cooperation with a doctor.
In the event of an unfavorable course of the disease, an increase in symptoms can also be expected. Freedom of movement is restricted and signs of wear and tear can develop. When it comes to medical care, the treatment options are very limited. There is the possibility of a surgical intervention in which there is a partial amputation of the affected areas.
A prognosis is only possible on an individual basis, as this depends on the further course of healing and the original enlargements of the skeletal system. There may be impairments in mobility. However, the aim is to achieve an improvement in gripping function or movement sequences through an operation. In addition, existing complaints when moving should be reduced to a minimum. Physiotherapeutic measures are necessary to support good health development.
Those affected can achieve relief from the symptoms themselves if they independently implement the exercises learned in everyday life. In addition, overweight, for example, should be avoided. This has an unfavorable influence on the skeletal system.
Direct preventive measures that would protect against macrodactyly do not exist because the triggering causal factors are not known. However, since it is believed that the predisposition to the disease develops in the fourth to sixth week of pregnancy, pregnant women can be advised to scrupulously avoid pollutants and toxins during this critical phase of pregnancy. In particular, abstinence from smoking and alcohol and possibly also from heavy coffee consumption can be regarded as indirectly effective preventive measures.
You can do that yourself
Since macrodactyly is a congenital disease, only symptomatic treatment can be considered. This surgical procedure, in which the growth plate of the affected bone is bridged, can be supported by the typical preoperative measures.
The person concerned should not drink alcohol or consume any other stimulants before the procedure. Depending on what the doctor in charge recommends, you may not eat anything for a few hours before the procedure. After the procedure, the affected part of the body should be rested. 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 in the doctor’s office are indicated. If symptoms arise, such as pain or movement disorders, the doctor must be informed immediately. A second operation is then usually necessary.
Pain therapy can be supported by classic home remedies such as cool pads. In consultation with the doctor, homeopathic remedies such as belladonna or arnica are also permitted. In the event of an amputation, the most important measure is the purchase of a suitable orthopedic replacement.