Chondrodysplasia: how to identify in a timely manner, causes, treatment

Chondrodysplasia: first symptoms and treatment options

Unfortunately, in today’s world widespread diseases of joints and spine.

Every day they look younger, and already after the age of 40 years, virtually every second in one degree or another has felt the brunt of these diseases.

These diseases significantly worsen the quality of human life, and in some cases can lead to complete disability. One of such diseases include chondrodysplasia.

What’s the insidiousness of the disease?

The disease belongs to the group of rare diseases characterized by abnormalities of the skeleton.

Chondrodysplasia is a disease of the cartilage that disturb the proper growth of joints and the entire skeleton of a man. The process of ossification of cartilage may be excessive or insufficient, which provokes the disease.

Very often it develops in adolescence, when there is an intensive growth and pubertal maturation.

The disease poses a serious threat to health, because it can completely disrupt the formation of the skeleton, develop diseases of the joints and spine and lead to disability. Also the growth of cartilage adversely affects the surrounding organs.

Therefore, in order to avoid adverse effects and complications of treatment of disease is carried out in the shortest possible time.

What happens during the progression of the disease?

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During the development of the pathology occurs excessive formation of cartilage that covers the joints and the bone surface, forming the intergrowth. Growing the volume of the joints is greatly increased and deformed.

The limb’s getting hard to move, bend and significantly increase in size.

With the defeat of the foot, observed deformation and the gigantism of the fingers, which complicates movement of the patient.

If the pathology affects the skull, the growth compress the brain, there is the chance of developing epilepsy.

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When the disease develops in the ankle joint, happening excessive growth of the femur and tibia. As a rule, the length of the joints is not increased.

Chondrodysplasia with insufficient development of cartilage, depleting the joints, creates a «duck walk», makes the movement over time of the observed dislocations and limb deformities.

The causes of the disease

The causes of the disease are not fully understood and are mostly genetic in nature.

But in some cases, chondrodysplasia develops in older children and even in older age.

The reason for this is hormonal changes, anoxia of the vessel walls.

Also, some experts attribute to the factors in the emergence of the disease unfavorable environmental conditions, infectious and viral diseases of pregnant women, weakened immune system.

Cause acquired abnormalities called postnatal and injury.

What are types of dysplasia?

Chondrodysplasia is divided into several basic types:

  1. Epiphyseal is a multiple joint dysplasia, characterized by excessive formation of cartilage tissue and its growth in the joint. Characteristic features: the gigantism of both limbs, change skin.
  2. To pisarei include: achondroplasia, hypochondroplasia, disease Madelung and some others. Tizernye of chondrodysplasia affect the germination zone of the bone, which disrupts skeletal growth.
  3. Metaphyseal disease affects the area between the head and the body of the bone. Is characterized by limb deformities and a significant lag in growth.
  4. Also cartilaginous growths can form in metaphase bones, their sizes can be quite small or grow to the size of a large Apple. Seals with a small bone tissues, the patient doesn’t need treatment. But, if growth increases, it is expected surgery. Most often suffer from the forearm, ribs, Shin bones.
  5. Ectstasy refers to Hisaronu disease, is quite common. The main feature of the disease is that it is painless, the pain only occur when there is compression of the nerve. Nevertheless, over time, this chondrodysplasia leads to bone deformation and shortening.
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Symptoms of chondrodysplasia pronounced as accompanied by deformation of the skeleton and increase in the joints.

During the course of the disease symptoms such as the change in length of the joints, curvature and stunted growth. In some cases, there may be swelling and redness.

As a rule, patients characterized by a disproportionate body shape. It’s small stature, with normal size torso and shortened limbs, small fingers. The head is large, face with a flattened nose and hyperplasia of the brow.

In addition, certain forms of the disease are accompanied by changes in the skin often appear dark spots, a variety of lipoma, shortness of breath, obesity, etc.

For some types of epiphyseal chondrodysplasia, they are accompanied by insufficient education of the cartilage, the curvature of the hip joints, lack of agility.

In parallel, patients can progress to cardiac and eye diseases, pathology of the kidneys and liver, as well as some other ailments.

Complexity of diagnostics

At an early stage of manifestation of deformity is very difficult to detect. But with the development of illness, manifested some symptoms that can be detected on palpation.

For example, various seals on the surface of the joint. However, to be very clear and definitive diagnosis is possible by means of x-ray examination, in rare cases, using a CT scan.

In addition, in the recent past in laboratory tests in the diagnosis of this disease is not needed.

But today, as many proved that the disease is hereditary, genetic testing is recommended, they bring clarity in diagnosis and treatment of some of the types of chondrodysplasia.

Studies with biopsies are very rare.

Surgery as the only treatment

The primary goal of treatment of chondrodysplasia is to improve the quality of life of the patient, by removing the bony growths, because in the future this may result in full disability.

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Removing the growths is performed using surgery, which is the main treatment.

The larger size of the growths and the occurrence of contractures carry out corrective operations. In more severe cases, resort to amputation of limbs.

The threat of disability is a reality

Late diagnosis and late treatment of the disease can lead to serious complications. The patient can greatly deform the skeleton, which causes partial or complete immobility.

Also during the disease often injured soft tissues, they become the reason for tendinitis and bursitis. These pathologies can significantly affect the quality of life of the patient.

Often there are some complications after surgery, after a rehabilitation period of leave.


The Outlook on the reason of the disease depends largely on the containment and proper treatment of disease and General condition of the patient.

When pathology is detected without delay, and timely started therapy, the possible good results. If the expansion is too large, it relates to extremities, hold their amputation.

With regards to chondrodysplasia skull, unfortunately the forecast is not entirely unfavorable.

Chondrodysplasia is a very serious and severe disease. However, a proper surgical intervention can prevent the development of severe forms and maintain patient health.