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This disease, generally autosomal dominant, belongs to the group of limb malformations.
The medical term brachydactyly describes shortened fingers.
This genetic defect occurs either isolated or syndromic and can have a primary or secondary cause.
It is characterized by bone dysostosis. The patient has one or more fingers that are shortened to different degrees.
However, doctors also use this term to summarize malformed and shortened fingers.
The term brachydactyly comes from ancient Greek and means “short finger.” It dates back to the Belgian physician and anatomist Héctor Louis Francois Leboucq (1848-1934).
Causes of brachydactyly
Brachydactyly is a malformation that occurs through inheritance within a family.
Brachydactyly is isolated or syndromic. In the first case, the inherited disease does not present additional side effects, while in the second case, it is due to a complex malformation syndrome.
Some identifiable forms occur in combination with dwarfism. Even in the case of isolated brachydactyly, the finding is not easy since it can be associated with subtle changes in other areas of the body.
Other possible manifestations are malformations of the hand, such as polydactyly, syndactyly, and synphalangism.
Research has now reached the point where identification of the causative gene is possible for most isolated and syndromal forms.
Types
Brachydactyly manifests itself in several ways. In most cases, short fingering occurs on an asymmetrical lateral base.
Sometimes the phalanges even fail. Depending on the extent of the shortening, a distinction is made in medicine between the different forms of brachydactyly.
It is differentiated according to specific characteristics, such as the exclusive appearance of shortened fingers or the simultaneous formation of malformations of other organs.
On the one hand, brachydactyly can be primary, but on the other hand, it can also be a secondary consequence of certain diseases.
Brachydactyly is divided into eleven forms and is subdivided into types depending on the extent of the shortening.
The types are A1 (Farabee type), A2 (Mohr Wriedt type), A3 (V brachymesophalangia), A4 (Temtamy type), and A5 (Osebold-Remodini syndrome), A6 (Osebold-Remodini syndrome), A7 (Osebold-Remodini syndrome). Brachydactyly heterogeneous mixture Brachydactyly Smorgasbord), B, C (Haws type), D, and E.
Furthermore, combinations between types B and E and a common occurrence of types A1 and B are also possible.
Brachydactyly type D
The most common form of brachydactyly is type D. This is a shortening of the thumb and nail.
Typical of this short fingering form of expression usually occurs in both hands. Sometimes there is also a shortening of the big toe.
The probability of type D brachydactyly varies between 0.41 and 4.0 percent, depending on the population.
Only types A3 and D are increasing more and more; the other types of brachydactyly are a rare phenomenon.
Symptoms of brachydactyly
Brachydactyly appears in different forms. Most patients show symmetric lateral symmetry.
Sometimes entire phalanges are missing. Doctors differentiate this malformation according to specific characteristics, for example, whether only the fingers or toes are affected or whether there are also malformations of other organs.
This distinction is made because brachydactyly occurs in primary or secondary form.
In the case of the primary and isolated course of the disease, there is only a malformation of the fingers or toes without the involvement of additional clinical pictures.
In the secondary, syndromal type, shortening is a consequence of certain conditions, such as Aarskog-Scott syndrome (malformation of the male genitalia, abnormalities of the face and fingers), a rare, inherited disease.
In this case, brachydactyly is a secondary consequence of the first disease. The last nail of the thumb is shortened; this shortening of the thumb occurs in both hands.
Diagnosis
In most cases, brachydactyly does not need to be further diagnosed by a doctor.
This condition is already visible immediately after birth and is determined by the pediatrician.
Radiographs and clinical examinations make a diagnosis. Furthermore, the finding is supported by anthropometric measurements.
There is no reason for prenatal diagnosis if the isolated form of brachydactyly is present.
If there is a syndromic form in a causal mutation, it is possible to perform a molecular prenatal diagnosis with chorionic villi (invasive prenatal biopsy) at week 11 and amniocentesis (the amniotic sac is punctured to obtain amino acids for diagnosis) at week 14.
Genetic counseling includes the type of disease that runs in the family. The doctor advises future parents about the nature of the inheritance and the absence or presence of other symptoms.
The probability of developing type D brachydactyly ranges from 0.41 to 4.0 percent.
There is a reduced expression of the genetic defect in the male population. This inherited disease’s phenotype (occurrence) has only a small number of the characteristics that lead to the disease.
Complications of brachydactyly
Brachydactyly can usually occur in different ways and leads to other complications.
The patient suffers from short fingers. However, it also happens that full fingers are missing.
In addition to the fingers, brachydactyly can also hurt other body organs and cause malformations or defects in them.
However, in most cases, only the missing or poorly formed fingers are present, and there are no further physical limitations or complications.
Brachydactyly can also cause malformations of the penis. In these cases, the patient’s self-esteem often decreases.
The sick also suffer physically and psychologically from the presence of this condition.
Sexual experience is also limited in men and can lead to depression and other mental health problems.
Brachydactyly does not lead to a shortened life expectancy.
Natural treatment is not possible, but cosmetic surgery can be performed if the patient wishes. There are no complications. In severe cases, the function of the hand in physiotherapy must be supported and treated.
Brachydactyly treatment
As a general rule, no treatment for brachydactyly can be carried out.
However, since brachydactyly can lead to severe restrictions and complaints in the daily life of the affected person, a doctor should always be consulted if there is a developmental disorder in children to avoid further complications and difficulties in age adult.
Due to brachydactyly, most patients depend on psychological treatment. When inferiority complexes appear, a doctor should be sought to avoid states of depression.
Physical therapy can help in these cases. The doctor should be visited at an early age so that the affected person gets used to the restrictions and learns how to handle them properly.
Occupational therapy or physical therapy can help strengthen hand function and reduce shortening effects.
The prognosis for the various types of brachydactyly depends on the type and severity and ranges from severe to minimal impairment.
Surgical interventions are unnecessary, as the affected person can usually live without discomfort with shortened fingers.
Plastic surgery is indicated only for cosmetic reasons or in case of severe limitation of the function of the hand.
On the other hand, surgical interventions are very promising and can lead to a complete restoration of the shape of the hands. This depends on the expression of the misshapen bones.
To achieve the best possible result, the intervention should be carried out after completing the growth process. Before the end of physical growth, the chances of correction are generally not permanent.
Surgery may involve bone lengthening and complete replacement of lost bones.
Forecast
For many patients, brachydactyly is associated with a significant reduction in quality of life for psychological reasons.
Patients with shortened or missing toes often avoid situations where they have to show their bare feet. Water sports and beach vacations are considered taboo.
Suppose the person is severely affected to a great extent or severely limited. In that case, they should study the possibility of plastic surgery and consider it an option, seeking the advice of a specialist in cosmetic surgery on the hands and feet.
If a cosmetic procedure is excluded, those affected can learn in the context of psychotherapy to better cope with their deterioration and overcome complexes.
The physical deficit is often perceived as entirely exaggerated and disproportionate to the actual disability.
