Proximal symphalangism is a genetic disorder characterized by the presence of abnormal connection or fusion of the proximal phalanges of the fingers and toes. This pathology can manifest itself in one limb or in several, affecting the bones. The disease belongs to a group of congenital anomalies, and its manifestations can vary from minor deformities to functional impairments. Symphalangism can affect the overall function of the arm or leg, making it difficult to grasp or move. The pathology is considered as an isolated manifestation or can be associated with other anomalies, such as syndromes.

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History of the disease and interesting historical facts

The history of proximal symphalangism goes back to early descriptions of various limb anomalies. The first significant observations were recorded in the late 19th century, when doctors began to systematize data on congenital anomalies. For example, in 1895, British anatomist A. A. Brown described cases of fusion of fingers, but did not associate them with hereditary factors. Later, in 1948, Swiss surgeon Emil Benedict published the results of his research, in which he described in detail the clinical manifestations of proximal symphalangism and proposed approaches to treatment. Interestingly, in different cultures, limb anomalies such as symphalangism were associated with mystical or divine phenomena, although a scientific approach to these pathologies began to form only in the 20th century, when the first steps were made in genetics.

Epidemiology

According to epidemiological studies, proximal symphalangism occurs with a frequency of about 1 case per 30,000 newborns. In some regions and populations, the frequency may vary. An example is the results of a study conducted in one of the clinics, which found that in a certain community the frequency of the disease reached 1 case per 20,000. In addition, among groups where consanguineous marriages occur, the above-mentioned condition is observed, which confirms the genetic nature of the disease. Studies also show that both boys and girls can suffer from this pathology, but among sick boys, the number of cases is registered slightly more often.

Genetic predisposition to this disease

Proximal symphalangism is caused by mutations in certain genes associated with limb development. In particular, studies show a link between the disease and mutations in genes such as GDF5 and ZFHX2. These genes play a key role in embryonic development, affecting ossification and limb formation. Mutations can be hereditary and transmitted in an autosomal dominant manner, meaning that one copy of the mutated gene is enough to cause the disease. Cases of sporadic forms of symphalangism have also been described, which can occur without any obvious hereditary predisposition.

Risk factors for the development of this disease

There are various factors that may increase the risk of developing proximal symphalangism, including:

Genetic predisposition: presence of cases of proximal symphalangism in the family.
Physical factors: the impact of various thermal or mechanical influences on pregnancy.
Chemical factors: exposure to toxic substances (eg, certain medications, alcohol) during pregnancy.
Age of parents: Delayed motherhood may increase the risk of developing abnormalities.
Infectious diseases: Infections suffered by a pregnant woman may also be associated with the development of congenital anomalies.

Diagnosis of this disease

Diagnosis of proximal symphalangism usually begins with a physical examination of the patient, which looks for abnormal shape or placement of the fingers. The main symptoms are:

Fusion or anomaly of the proximal phalanges of the fingers;
Limitation of function of an arm or leg;
Dysfunction in movements.

Laboratory tests may include genetic testing to identify associated mutations. Radiological tests, such as x-rays, help evaluate the structure and position of bones. In some cases, an MRI may be needed to evaluate soft tissue structures. The differential diagnosis includes conditions such as digital symplasia, which can have a similar clinical presentation.

Treatment

Treatment of proximal symphalangism depends on the severity of the anomaly and functional impairment. The main approaches include:

General treatment: aimed at rehabilitation and improvement of limb functions.
Pharmacological treatment: often used to treat associated pain syndromes.
Surgical treatment: In some cases, surgical interventions may be required to correct anomalies and restore functionality.
Other types of treatment: Physical therapy and exercise therapy may be helpful in rehabilitation.

List of medications used to treat this disease

There are currently no specific medications for the treatment of proximal symphalangism, but the following may be used to relieve associated symptoms:

Nonsteroidal anti-inflammatory drugs (eg, ibuprofen)
Painkillers (eg paracetamol);
Short courses of steroid drugs in cases of severe inflammatory reaction.

Disease monitoring

Patient monitoring in case of proximal symphalangism includes periodic examinations and evaluation of limb functionality. Control stages include growth and development assessment, functional tests and, if necessary, corrective surgical interventions. The prognosis of the disease most often depends on the severity of the anomaly: in most cases, functionality can be preserved with appropriate treatment and rehabilitation. Complications may include deterioration of limb mobility or development of secondary musculoskeletal diseases.

Age-related features of the disease

The course of proximal symphalangism may vary depending on the age group. In newborns, cases may be easily diagnosed, but difficulties in movement may appear later as the child grows. Children and adolescents usually show significant improvement after surgical treatment and rehabilitation. In adults, complications may manifest as chronic pain and limitations in movement, which, in turn, require a more formal approach to treatment.

Questions and Answers

What is proximal symphalangism? This is a genetic disorder that is characterized by abnormal fusion of the proximal phalanges of the fingers.
What are the causes of this disease? The disease may be associated with mutations in certain genes, as well as risk factors such as genetic predisposition and exposure to toxic substances during pregnancy.
How is proximal symphalangism diagnosed? Diagnosis is based on clinical examination, genetic testing and radiological examinations.
What treatment is recommended for this disease? Treatment may include medication, surgery, and rehabilitation measures to improve limb functionality.
What is the prognosis for patients with proximal symphalangism? The prognosis varies depending on the severity of the condition, but with adequate treatment and rehabilitation, most patients can achieve significant improvement.

Proximal symphalangism