Cleidocranial Dysostosis

Cleidocranial Dysostosis is a rare congenital disease characterized by incomplete ossification of the skull bones and the absence of clavicles. This is a hereditary disease that is passed from parents to children.

Dysostosis Clavico-Cranial is usually diagnosed at birth or in early childhood. Children with this condition usually lack collarbones, resulting in a characteristic appearance: they have a wide span between the shoulders and can clasp their arms behind their head. In addition, they may have an open nape and a prominent forehead.

One of the most serious consequences of Clavicular-Cranial dysostosis is the possibility of developing pneumonia, since these children do not have enough muscle mass to maintain proper ventilation of the lungs. There may also be disruption of the formation of teeth and tooth enamel, and, in some cases, impairment of hearing.

Treatment for clavicular-cranial dysostosis depends on the specific symptoms and may include surgical repair of the collarbones, dental treatment, and correction of other health problems. However, although treatment can help improve the quality of life of patients, clavicular-cranial dysostosis cannot be completely cured.

Although cleidocranial dysostosis is a rare condition, its diagnosis and treatment are important for those who suffer from this condition. Early detection and treatment can help improve patients' quality of life. However, attention must also be paid to supporting patients and their families, as this disease can have a significant impact on their lives and well-being.

The clavicle is one of the elements of the human chest skeleton; it connects the body of the sternum with the clavicular cavity of the humerus. Normally, the development of the bones of this section occurs together with the humerus, sternum, and thoracic vertebrae. However, disruption of embryogenesis during the formation of the skeletal system leads to abnormalities

Cleidocracnotic dysostosis

**Clavicular-cranial dysostosis, or carnoostosis**, is a congenital disorder of skeletal formation in the form of impaired ossification of the bones of the skull and collarbones. It is characterized by underdevelopment of the air-bearing bones of the skull (auditory and sphenoid sinuses) and the clavicular bones of the shoulder girdle, respectively. Rare (orphan) hereditary congenital osteodystrophic syndrome, inherited in an autosomal dominant manner. It occurs predominantly in males due to a defect in homocysteine ​​metabolism and leads to the formation of clavicles of various shapes and locations. **Cleidocranial dysostosis** is a congenital genetic defect. It manifests itself in the underdevelopment of the auditory bones and the absence of collarbones on the chest. This causes deformation of the jaw, skull and spine. Such a defect leads to a number of diseases of other organs: the heart, lungs, musculoskeletal system and others. The treatment of such an illness consists of a whole range of measures.

Causes

- Dysostosis of the clavicular-cranial type occurs only in men. The causes are mutations in the SLC6A39 – SLCO4A1 genes, which control the metabolism of vitamin C and homocystenine. The genetic defect leads to the accumulation of a disproportionate amount of homocystine, which causes rapid bone deposition in the form of collarbones, but the bone tissue begins to form incorrectly. - In the diffuse form, the splitting is bilateral and affects both hemispheres. In this case, the pathology usually becomes noticeable in the first decade of life. Clinically, such fusion disorders are always combined with multiple anomalies of jaw development, including malocclusion. The development of shortening of the lower jaw may be accompanied by the formation of brachiocephalic syndrome with decreased mobility and deformation of the masticatory muscles. The sources of existence will be the areas of formation of facial tissue in the area of ​​the zygomatic ridges. - A number of theoretical data indicate that the metabolism of vitamin C, homocetin and glutathione have a close relationship and affect all these metabolic processes; homocetin also affects the process of skeletal ossification. A deficiency of one of them can lead to skeletal defects, especially in combination with severe neurological and mental disorders. Factors that enhance the clinical symptom complex may include severe infectious diseases, intoxication, and trauma. The recession corridor is between 25% and 80%. Provoking factors can be mineral metabolism disorders, which sometimes become the basis for prescribing lifelong calcium replacement therapy. Most often, skeletal dysplasia occurs in patients with immunodeficiency conditions (Louis-Bar syndrome and other forms of primary immunodeficiencies) resulting from neonatal sepsis and chorioamneonitis disease. With time

Cleidocranial Dysostosis: Congenital defect in bone formation

Dysostosis Clavico-Cranial, also known as Kleid-Klein syndrome, is a rare congenital disorder characterized by incomplete ossification of the skull bones and absence of the clavicles. This condition results in various physical features and can affect the function of the skeletal system and other body systems.

With Clavicular-Cranial Dysostosis, there is a delay in the process of ossification of the skull. Usually the skull bones ossify completely during fetal development, but in patients with this syndrome the ossification process may be incomplete or absent. This results in a soft and flexible skull, which can lead to various problems.

Missing collarbones are another characteristic feature of this condition. The collarbones are paired bones that connect the sternum to the humerus. The absence of collarbones in Kleid-Klein syndrome results in decreased mobility of the shoulder joints and may limit arm movement.

Apart from these basic characteristics, patients with Clavicular-Cranial Dysostosis may also exhibit the following symptoms:

1. Delayed teeth and tooth alignment problems: Missing collarbones can cause delayed teeth and tooth misalignment. This can make chewing and digestion more difficult and may require additional oral care.

2. Soft palate and high calvarial vault: Some patients with Dysostosis Clavico-Cranial have a soft palate as well as a high calvarial vault. This can affect speech development and cause problems with pronouncing sounds.

3. Delayed development of the skeletal system: Other bones of the body, including the spine and pelvic region, may also develop more slowly in patients with Dysostosis Clavico-Cranial. This can lead to delays in growth and formation of the skeletal system.

4. Impact on self-esteem and psychosocial well-being: The external physical features associated with Dysostosis Clavio-Cranial may affect the self-esteem and psychosocial well-being of patients. They may need support and psychological help to overcome these problems.

The diagnosis of Clavicular-Cranial Dysostosis is usually based on clinical signs and examination, including x-rays of the skull, chest and other bones.

Treatment for Cleidocranial Dysostosis is aimed at managing symptoms and maintaining normal function. This may include:

1. Surgical correction: In some cases, surgery may be required to correct physical defects associated with missing collarbones or other skeletal abnormalities. For example, surgery may be performed to implant collarbones or correct the shape of the skull.

2. Orthodontic Treatment: Patients with Dysostosis Cleidocranial may require orthodontic treatment to correct misalignment of teeth and improve occlusion (the meeting of the teeth of the upper and lower jaws).

3. Early intervention and support: It is important to provide early intervention and support to patients with Clevicocranial Dysostosis, especially with regard to speech and skeletal development. Physical therapy, speech therapy, and other forms of rehabilitation may be helpful to improve functionality.

4. Support for psychosocial well-being: Patients and their families may require support from psychologists or social workers to cope with the emotional and psychosocial aspects associated with this condition. Group sessions and support from rare disease organizations may also be helpful.

Dysostosis Clavico-Cranial is a rare congenital disease that affects the formation of the skull bones and the absence of collarbones. Although this condition can present challenges for patients, modern methods of diagnosis, treatment and support help manage symptoms and improve the quality of life of patients with Clavicular-Cranial Dysostosis. Continued research and resources to support patients are important to further increase awareness of this condition and improve treatment outcomes.