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Cleidocranial dysplasia: what it is, characteristics and treatment

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Cleidocranial dysplasia is a very rare genetic and hereditary malformation in which there is a delay in the development of the child's skull and shoulder bones, as well as the teeth.

Although there may be several cases of this condition in the same family, usually the characteristics and symptoms presented vary greatly from one person to the next and, therefore, each case must be well evaluated by the pediatrician.

Main features

The characteristics of cleidocranial dysplasia vary widely from person to person, however, the most common include:

  • Delay in closing the baby's molars; Protruding chin and forehead; Nose too wide; Palate higher than normal; Clavicles shorter or absent; Narrow and very flexible shoulders; Delayed tooth growth.

In addition, dysplasia can also affect the spine and, in these cases, other problems may arise, such as scoliosis and short stature, for example. Likewise, the alteration of the bones of the face can also result in modification of the sinuses, which can cause the child with cleidocranial dysplasia to have more frequent sinusitis attacks.

How to confirm the diagnosis

The diagnosis of cleidocranial dysplasia is usually made by the pediatrician after observing the characteristics of the condition. Therefore, it may be necessary to do diagnostic tests, such as X-rays, to confirm changes in the bones in the skull or chest, for example.

Who can have this condition

Cleidocranial dysplasia is more common in children in which one or both parents have the malformation, however, as it is caused by a genetic alteration, cleidocranial dysplasia can also arise in children of people who do not have other cases in the family, due to a genetic mutation.

However, cleidocranial dysplasia is very rare, with only one case in every 1 million births worldwide.

How the treatment is done

In many cases, it is not necessary to do any type of treatment to correct the changes caused by cleidocranial dysplasia, as they do not prevent the child's development, nor do they prevent him from having a good quality of life.

However, in cases of greater malformation, it is common for the doctor to recommend different types of treatment, according to the change to be treated:

1. Dental problems

In the case of dental problems and changes, the goal is to improve the appearance of the mouth to allow the child to develop with greater self-confidence, as well as to have greater ease in chewing food.

Thus, it is important to refer to a dentist or orthodontist to assess the need to apply some type of appliance or even surgery.

2. Speech disorders

Due to changes in the face and teeth, some children with cleidocranial dysplasia may have difficulty speaking correctly. Thus, the pediatrician can indicate the realization of speech therapy sessions.

3. Frequent sinusitis

Since sinusitis is relatively common in those who have this condition, the doctor can indicate which are the first warning signs that should lead to suspicion of a sinusitis, such as irritation, the presence of mild fever or runny nose, in order to start treatment as soon as possible and facilitate recovery.

4. Weak bones

In the event that cleidocranial dysplasia causes weakening of the bones, the doctor can also advise on supplementation with calcium and vitamin D, for example.

In addition to all this, throughout the child's development it is also important to make regular visits to the pediatrician and an orthopedist, to assess whether new complications arise that need to be treated to improve the child's quality of life.

Cleidocranial dysplasia: what it is, characteristics and treatment