Do you know the symptoms of 'Cruzon's disease'?

 

Cruzon's disease is one of the representative diseases of 'premature synostosis of the cranial suture', which causes abnormalities in the growth of the baby's skull. In addition to being prone to problems with the shape and size of the head and face, symptoms such as headache or nausea may be accompanied by pressure on the brain of the skull. In this article, we will explain what kind of disease cruzon disease is, its symptoms, causes, and treatment.

What is Cruzon's disease?

Cruzon's disease is one of "early synostosis of cranial sutures" and is designated as a nationally designated incurable disease (designated incurable disease 181). Similar diseases include Appel's syndrome and Pfeiffer's syndrome.

cranial suture premature synostosis

What disease is referred to as cranial suture premature synostosis?

Cranial suture premature synostosis is a disease in which "sutures" in the skull of a baby merge (close) shortly after birth. The skull of a newborn baby is divided into 7 bones, each of which is connected by a joint called a 'suture'. It is connected. This is to increase the volume by widening the skull in line with the rapid brain growth of the baby.

This suture closes naturally when the brain grows, but in cranial suture premature synostosis, the suture closes during brain growth. Therefore, it is easy to cause abnormalities in the shape of the head and face and may affect mental development.

Cruzon's disease is a designated incurable disease

What is a 'designated incurable disease' that also includes cruzon disease?

Designated incurable diseases are among the incurable diseases defined in the Incurable Diseases Act that can receive medical expenses from the state. The requirements are 'the number of patients does not reach a certain number in Korea' and 'objective diagnostic standards have been established'.

Cruzon disease symptoms

What are the symptoms of cruzon disease?

If the sutures are prematurely fused, the skull in that area cannot grow any more. So, around the closed sutures, the shape of the head and face will be abnormal. In addition, if the skull is smaller than the brain, it can affect mental development.

abnormalities of the head and face

What abnormalities in the shape of the head and face can occur with cruzon disease?

Depending on which part of the suture (joint of the bone) is fused, the method of deforming the head or face is different. The representative head deformities in Cruzon's disease are 'short head (short head)', 'cusp head (point top)', 'columnar head (long horizontal head)', and 'triangular head'.

In addition, if the facial bones are small due to early fusion, symptoms such as 'relatively large eyes' and 'difficulty breathing' may be accompanied. Grow.

Impact on mental development

Does Cruzon's disease also affect mental development?

The skull may also affect the normal development of the brain by not growing to a size suitable for the size of the brain in the skull. Cruzon's disease is also rarely accompanied by a delay in mental development, but it is not seen in all cases, and the details have not been elucidated yet.

Other symptoms of cruzon disease

What other symptoms do you have with Cruzon's disease?

When the pressure on the brain increases with the small skull, symptoms such as headache, nausea, and vomiting become more likely to occur. However, these symptoms rarely occur soon after birth, and most appear as they grow. Also, in Cruzon's disease, hydrocephalus, etc. may occur because the outlet of the fluid produced in the brain is narrow.

Causes of Cruzon's disease

What can you think of as a cause of Cruzon's?

Cruzon's disease is known to be caused by a certain genetic abnormality. There is an abnormality in the 'FGFR2 gene', and in some cases, an abnormality in the 'FGFR3 gene'.

inheritance from parent to child

Is Cruzon's disease inherited from parents to children?

Cruzon's disease is classified as an 'autosomal dominant genetic disease' caused by an abnormality in one of the genes inherited from parents. Therefore, it is known that if one of the parents has a causative genetic mutation, there is a 50% chance of developing it.

Cruzon's disease examination subject

If Cruzon's disease is suspected, which department should I see?

Cruzon's disease, a designated incurable disease, is diagnosed and treated at base hospitals linked with incurable disease treatment and medical cooperation hospitals for incurable diseases. Therefore, if cruzon disease is suspected, it is necessary to first seek treatment at a general hospital or clinic and then be introduced to the base hospital or partner hospital. .

Cluzon's disease test

What tests are done for Cruzon disease?

In Crouzon's disease, the following imaging tests are performed to make a definitive diagnosis of the disease.

• simple head x-ray examination
• CT scan
• MRI scan
• cerebral blood flow scintigraphy
• head x-ray picture
• Orthophantomo Photos

In the case of cruzon disease diagnosis, other tests such as visual acuity and fundus examination, ocular protrusion, and hearing are also performed. In case of genetic testing, medical examination and genetic counseling are required.

Cruzon's disease treatment

What is the treatment for cruzon disease?

Surgery is performed to widen the skull or facial bones. It is common to perform 'skull formation' for children under 1 year of age, and 'bone extension' for those over 2 years of age or if the skull is extremely narrower than the brain. Cruzon's disease It is known that treatment is desirable for children under 1 year of age to prevent brain development disorders or head and facial deformities.

cranioplasty

What is cranioplasty?

Cranioplasty is an operation to increase the volume of the head by modifying the shape of the deformed head. The skull is divided into several parts and refined to a shape close to normal. Children under the age of three can build new bones in that area after a while.

osteotomy

What kind of surgery is osteotomy?

In bone extension, new bones are made by inserting a sheath into the skull and gradually increasing the gap with a special device. After 2 years of age, the strength to create new bones weakens, so this bone extension is common.

Cruzon's disease sex difference, age difference, etc.

Are there gender differences or age differences in the onset of cruzon disease?

Although gender or age differences have not been revealed, the fertility rate is very rare, about 5 to 16 per million births. In addition, the number of patients with cruzon disease accounts for 4.5% of all premature sutures of the skull.

organize

Cruzon's disease is one of 'head suture premature synostosis', which occurs when 'sutures' connecting the bones of the baby's skull are fused shortly after birth. In addition, there may be delays in mental development. Since cruzon disease is a nationally designated incurable disease, treatment is required at regional hospitals linked to incurable disease treatment and medical cooperation hospitals for incurable diseases.