Cleidocranial dysostosis: what is it, features and treatment

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Cleidocraneal dysostosis, also known as 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 the region of the children’s shoulders, as well as of the patients.

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

main features

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

  • Delay in the cierre de la mollera or fontanela in the baby;

  • Prominent chin and forehead;

  • Very wide nose;

  • Mouth palate higher than normal;

  • Bad or missing clavicles;

  • Stretchy and very flexible shoulders;

  • Delayed growth of the dients.

In addition, dysplasia can also affect the spine and in these cases, other problems such as scoliosis and low stature can arise, for example. In the same way, alterations in the facial bones can lead to a modification of the nasal sinuses, which can lead to more frequent cleidocranial dysplasia in the child.

How to confirm the diagnosis

The diagnosis of cleidocranial dysplasia is usually performed by the pediatrician, after observing the characteristics of the condition. For this reason, it may be necessary to carry out diagnostic tests, such as X-rays, to confirm the alterations of the bones in the skull and the chest, for example.

Who can have this condition

Cleidocranial dysplasia is more common in children in which one or both parents have malformations, however, as it is caused by a genetic alteration, this condition can 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 is the treatment performed?

In many cases, it is not necessary to carry out a type of treatment to correct the alterations caused by cleidocranial dysplasia, which could not prevent the development of the child from having a good quality of life.

However, in cases of major malformation, it is common for the doctor to recommend different types of treatments to find out about the alteration to be treated:

1. Dental problems

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

In this way, it is important to go to a dentist or orthodontist to assess the needs, such as placing some type of device or before surgery.

2. Changes to the word

Due to alterations in the face and the patients, some children with cleidocranial dysplasia may have difficulty speaking correctly. Asimismo, the pediatrician can indicate to carry out sessions of therapy of the speech.

3. Frequent sinusitis

Since sinusitis is relatively frequent in a patient with this condition, the doctor can indicate which ones are the first warning signs that hagan suspect of a sinusitis, such as irritation, presence of mild fever or rhinitis, in order to initiate the proper treatment. faster possible and help in recovery.

4. Weaknesses

In the case of cleidocranial dysplasia causing weakness of the bones, the doctor can advise the consumption of supplements with calcium and vitamin D, for example.

In addition, in the course of the child’s development, it is important to see a pediatrician regularly and an orthopedist, to assess whether new complications arise that need to be treated to improve the quality of life of the child.

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Consult a Doctor | Translated by User2937

Content for educational purposes only

The translator user relied on the following text:

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Disclaimer – (English version>) This content has been prepared based on information from research, additional publications, or the translation/verification work of a volunteer editor of this web council. This is a non-profit service. It is strongly recommended that all details and information published be carefully verified. We never allow medication recommendations, medication package inserts or any medication guidance. We never allow partisan politics as information.

Isenção de responsabilidade – (versão em português): Este conteúdo foi preparado com base em informações de pesquisas, publicações adicionais ou no trabalho de tradução/verificação de um editor voluntário deste conselho web. Este é um serviço sem fins lucrativos. É altamente recomendável que todos os detalhes e informações publicadas sejam verificadas cuidadosamente. Nunca permitimos recomendações de medicamentos, bulas ou qualquer orientação sobre medicamentos. Nunca permitimos a política partidária como base para checagem. Para mais informações, leia nossos termos.

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