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General Practice 2023

Cleidocranial dysplasia: what é, featuresís and treatment

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Cleidocranial dysplasia: what é, featuresís and treatment
Cleidocranial dysplasia: what é, featuresís and treatment

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

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

Key features

The features of cleidocranial dysplasia vary greatly from person to person, however, the most common include:

  • Delay in closing soft spots on baby;
  • Protruding chin and forehead;
  • Nose too wide;
  • Roof of mouth higher than usual;
  • Shorter or missing collarbones;
  • Narrow and very flexible shoulders;
  • Delayed tooth growth.

In addition, dysplasia can also affect the spine and, in these cases, other problems such as scoliosis and short stature, for example, can arise. In the same way, 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 sinus 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, diagnostic tests, such as X-rays, may be necessary to confirm changes in the bones in the skull or chest, for example.

Who may 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 change, cleidocranial dysplasia can also appear 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 undergo any type of treatment to correct the alterations caused by cleidocranial dysplasia, as they do not impede 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 alteration to be treated:

1. Dental problems

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

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

2. Speech changes

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

3. Frequent sinus infections

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

4. Weak bones

In the event that cleidocranial dysplasia causes weakening of the bones, the doctor may 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 have regular consultations with a pediatrician and an orthopedist, to assess whether new complications arise that need to be treated to improve the child's quality of life.

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