What is brachydactyly, causes of development

The classification of the anomaly is determined by the degree of underdevelopment and is divided into types:

• A - the middle phalanges of the fingers are shortened and curved, dysplasia of the nail plates is manifested (such changes are usually divided into five subtypes);
• B - the phalanges at the ends of the hands and feet are underdeveloped, visible fusion of the fingers (second and third), pathologies of the formation of teeth, bone tissue of the skull and spine;
• C - the middle and proximal phalanges are shortened and fused, underdevelopment of the metacarpal bones is observed. Children with this type are characterized by short stature and mental retardation;
• D – shortened thumbs on all limbs;
• E – underdevelopment of the clavicles and metacarpal bones.

The most severe form is type B, the most common is type D, the rarest is E.

Causes

The disease is a hereditary genetic mutation that occurs as a result of the transmission of a defective gene from parents to a child. This gene is dominant, so it is enough for only one of the parents to be its carrier.

Symptoms

The disease is mainly characterized by short fingers. This defect is not only cosmetic, but also significantly affects the functionality of the limbs. In addition, brachydactyly can be combined with split or flattened fingers, their connection, joint stiffness, muscle weakness, absence of nail plates.

As a rule, hypophalangy refers to isolated defects, but sometimes it develops against the background of such syndromes:

• Poland - microdactyly is accompanied by syndactyly, absence of the large and small pectoral muscles, deformation of the ribs, amastia;
• Down - the main accompanying signs: shortening of the neck and skull, jaw anomalies, cataracts and strabismus, heart defects, deformation of the chest (funnel-shaped or keeled);
• Baymond - the presence of cerebellar ataxia, nystagmus;
• Aarskog-Scott - short-fingeredness is accompanied by joint instability, syndactyly, mental retardation, the presence of inguinal hernias, narrowing of the foreskin in boys.

Isolated brachydactyly cannot be a reason for artificial termination of pregnancy. If there are concomitant syndromes, the decision is made individually.

Diagnostics

It is carried out in the perinatal and postnatal periods. The main diagnostic methods are radiological methods of bone visualization and DNA diagnostics.

In the first case, a three-dimensional ultrasound examination is used, carried out at 20-24 weeks of pregnancy. A newborn is diagnosed after undergoing X-rays and on the basis of a clinical examination by a traumatologist-orthopedist. For both cases, a pedigree is compiled and analyzed.

Treatment

It is currently impossible to eliminate the root cause of the disease, therefore, both conservative and surgical methods are used for treatment, where the latter is the only effective one.

They are aimed at restoring motor activity and an aesthetic result. In this regard, interphalangeal adhesions are eliminated, bone, tendon-muscle and skin plastic surgery is performed, and the linear dimensions of the feet and hands are increased. The following surgical techniques are used: distraction, pollinization, autotransplantation of the toe to the hand. Thus, a consultation with a surgeon and orthopedist is required.

Conservative treatment is aimed at improving the functioning of the muscular-ligamentous apparatus, using physiotherapeutic manipulations, such as therapeutic physical training, massage courses. They should be considered as additional measures used in the postoperative period for preventive purposes to prevent secondary deformation of small joints.

Prevention

There are no specific preventive measures. In order to determine the likelihood of having a child with this defect, you should make an appointment with a geneticist. This must be done during pregnancy planning:

• patients with brachydactyly;
• couples whose family members suffer from this disease;
• families who already have a child with such a deviation;
• persons wishing to marry a sick person or a person who has sick relatives.

Medical genetic consultation will tell you about the risk of having a baby with a deviation.