And treated as inherited brachydactyly: symptoms and causes

Brachydactyly — features congenital anomalies of limbs

Abnormal development of phalanges is called brachydactylia.

The disease belongs to hereditary defect, which is characterized by reduced linear dimensions of the hands, feet, and phalanges in the feet and hands.

Korotkoplodnyh refers to the main symptom of this pathological development of bone.

Brachydactylia from the genes of parents are transferred to children and cause abnormality of the extremities. People with underdeveloped phalanges and short fingers live a normal life, but the choice of profession is restrictions.

Congenital anomaly of the extremities occurs in men and women with equal frequency. It is possible not only by reducing the size of the fingers, but also in their absence. To synonyms pathology include hypothalami and microdactyly.

Cause of the defect

Based on the studies it was established that the main reason for the underdeveloped phalanges and shortened fingers on the legs is heredity.

Brachydactyly is inherited by a dominant trait.

In the General structure of diagnosing genetic defects, anomaly of the extremities is a fairly high incidence rate.

The effect of exogenous factors on the fetus and heterozygous mutations of the gene tirozinkinazei receptor leads to abnormal development of hands, feet, toes and hands.

This gene is expressiruemogo in osteoblast and chondrocytes and is involved in their reproduction and maturation.

In the General structure of hereditary defects in the development of the share of brachydactylia accounts for about 24%.

Types of limb abnormalities

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Today there are several types of anomalies that determines the degree of pathological development of brachydactylia.

Presented the clinical picture allows to classify the disease and to distinguish between the main variants of bone changes in the phalanges.

The hereditary defective gene causes several types of anomalies.

The anomaly of type «A», the distinctive characteristics of which include the reduced length of the middle finger, the deviation of the phalanges, and also pronounced dysplastic changes of the nail plates defective fingers.

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The disease is extremities may have varying degrees of severity that define five variants of manifestation.

These include:

  1. Type «a 1» is a General stunting of the fingers on the background of the changed structure of the rudimentary phalanges of the middle finger. In addition, a defect occurs in combination with a reduced length of the main phalanx on the big toes of the hands and feet.
  2. Type «2» is diagnosed on the basis of the middle finger. He is much shorter size of all phalanges on both hands. The rest of the phalanx on the upper and lower limbs are not abnormal development. In addition to the reduced length of the phalanges of the defective finger may develop radial deviation, having a diamond shape. Such changes are accompanied by abnormal development of bones.
  3. Type «3» has a twisted or distorted position finger number five. The anomaly is defined on both hands and has the name of clinodactyly. Distortion can develop in the medial or lateral direction.
  4. Type «4» is diagnosed based on the pathological development of the second and fifth finger on both hands. The anomaly represented by their reduced size and underdevelopment of the middle phalanx. When problems with the feet can be diagnosed clubfoot and have alhusna – heel.
  5. Type «a 5» will be determined on the basis of the complete absence of middle phalanges for defective second and fifth carpal fingers. Reduced their appearance, dysplasia nail plates also relate to the distinctive characteristics of this type of clinical picture.

Also provide:

  1. Type «b» refers to a congenital defect, which manifests itself in partial or complete splicing of the second and third finger. To him the fundamental differences are the abnormal development of the nail phalanges and simultaneous anomaly of hands and feet. Brachydactyly of this type is accompanied by pathology of the spine, skull, and units of the dentition. Splicing occurs during embryonic development and is transmitted only through the male line.
  2. Type «C» is a severe form of congenital deformity of the fingers. Along with the main shortening of the phalanges there is a fusion, and the simultaneous underdevelopment of the metacarpal bones. Children with this diagnosis will vary low growth and problems with mental development.
  3. Type «D» diagnosed by pathological phenomena at first the fingers and toes. The second name of anomalies of this type include brachymetatarsia.
  4. Type «E» refers to a hereditary defect that is rarely found in clinical practice. It differs the isolated abnormality of the metacarpal and metatarsal bones. Pathology is accompanied by a symmetrical hypoplasia of the clavicles.
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The symptoms of pathological fingers

When the diagnosis in children isolated development of brachydactyly, symptoms of the pathology will differ minimalism and refers to a cosmetic defect.

But in most cases, malformation of the fingers is shown on the background of a more serious genetic diseases, among which should be noted:

  • down syndrome;
  • shortening of the neck;
  • the thorax is funnel shaped;
  • skull brachicephalicus type;
  • deformation of the ribs;
  • instability of the joints;
  • mental retardation;
  • poor locomotor apparatus function;
  • the lack of phalanges and fingers;
  • dysplastic lesions of the nail plates;
  • the unusual configuration of fingers shortened.

In the absence of a phalangeal fusion and polydactyly, sick children are not limited in the movement of the hands and feet.

Diagnosis of the defect

Diagnosis of congenital deformity of the fingers may be at different stages. If the family of patients with brachydactylia, it is recommended to carry out three-dimensional fetal ultrasound.

The pregnancy should be 20 — 24 weeks. Upon detection of anomalies of an isolated form does not recommend the adoption of artificial abortion.

And identified chromosomal syndromes provides the grounds for abortion.

To diagnostic work after the baby is born include:

  • visual and clinical examination;
  • radiography of the fingers and bone tissues on the hands and feet;
  • DNA diagnostics, the results of which have a decisive importance for the correct diagnosis.

The results of the research confirmed or excluded the diagnosis of congenital bone defect of the hands and feet.

Treatment and prevention

Today surgical techniques are the only effective method of treating abnormalities of bone in the phalanges on the upper and lower extremities.

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Surgical intervention can effectively solve the problems of the interphalangeal fusions to increase the size of hand and foot, and also eliminate kordopati.

Recovery support and motor function of the limbs is the main purpose of the operations. And aesthetics and problems of cosmetic defect refers to the secondary objectives of surgical method.

Conservative treatments include physiotherapy, massage and exercise therapy.

They are used to restore hand functions, stop, improving muscular frame and ligaments, and increase motor activity of the limbs.

Also traumatologists — orthopedists prescribe them for prophylaxis of deforming arthrosis of the joints of the hands and feet. The rapid development of genetic engineering gives hope for the treatment of immediate causes abnormal development of the phalanges.

Prevention of brachydactyly includes a visit to the medico — genetic consultation, at which parents can learn about the probability of occurrence in the family of a sick child.

They assist families with a history of such impairment in making the right decisions in the planning of future generation and consequences.

Timely recourse to specialists will allow to solve problems with a congenital abnormality of the limbs and to avoid irreparable consequences.