Crouzon syndrome: symptoms, causes and intervention

At birth, most human beings have a malleable skull that allows us to come into the world through the birth canal. These bones will be closed and sutured with age, as our brains grow and mature.

However, there are cases of different disorders in which this suturing occurs prematurely, which can affect both the morphology and functionality of the brain and various facial organs. One of the troubles people talk about Crouzon syndrome, an inherited disease of genetic origin.

Crouzon syndrome

Crouzon syndrome is 1 a disease of genetic origin characterized by the presence of craniosynostosis or suture of premature skull bones. This closure causes the skull to grow in the direction of the sutures that remain open, which generates deformities in the physiognomy of the skull and face.

These malformations can lead to serious complications for the proper development of the brain and all the organs that make up the head, problems that will appear over time as the child grows.

Symptoms of Crouzon syndrome

Symptoms usually appear around the age of two in children, usually not visible at birth.

The most obvious symptoms are the presence of a pumping of the skull with the upper and / or posterior parts crushed, as well as the exophthalmos or the projection of the eyeball outwards due to the presence of shallow eye sockets, a compressed nasal cavity which makes it difficult to breathe in this way, the palate fez and other facial and oral deformities such as prognathism or forward projection of the jaw or dentition alterations.

However, the most relevant and the most dangerous are breathing and eating difficulties, Which can put your life in danger. Hydrocephalus and other neurological disorders can also occur. The intracranial pressure is also higher than usual and seizures may occur.

All these difficulties can cause the child to have serious problems such as growing up dizziness, frequent headaches and problems with perception both in vision and in hearing.

Regarding the eye damageThe prominence of these makes them prone to infection and even atrophy of the visual system, and can lose sight.

In addition, facial deformities make it difficult to learn oral communication, which tends to delay learning. However, although these deformities can affect intellectual development, in most cases people with Crouzon syndrome generally have average intelligence corresponding to their developmental age.

Causes of this syndrome (etiology)

As mentioned above, Crouzon syndrome is a congenital and inherited disease of genetic origin. Specifically, the cause of this syndrome can be found in the presence of FGFR2 gene mutations, Or fibroblast growth receptor factor, on chromosome 10. This gene is involved in cell differentiation and its mutation causes an acceleration of the process of suturing all or part of the bones of the skull.

It is an autosomal dominant diseaseThus, a person with this mutation has a 50% chance of transmitting this disease to their offspring.


Crozon syndrome is an untreated congenital disease, although it may prevent some of its complications and / or reduce the impact of its consequences. The treatment to be applied must be interdisciplinary, With the help of professionals from different branches such as medicine, speech therapy and psychology.


In a lot of cases, some of the problems can be corrected with surgery. Specifically, cranioplasty can be used to try to fit the child’s head in a way which allows the normative development of the brain and in turn relieves intracranial pressure (which also greatly avoids the usual headaches that often suffer, produced in many cases at this pressure). It can also be used to treat possible hydrocephalus resulting from abnormal brain growth.

It can also be very useful nasal and bucofonatorial surgery, So that breathing and the passage of food through the digestive tract are facilitated and that problems such as prognathism and the palate are solved. Dental surgery may also be necessary, if necessary.

The eyes can also benefit from surgical treatment, reducing exophthalmos as much as possible and therefore the possibility of drying or infection of the visual organs.

Speech therapy and education

Because of the difficulties they can cause phonatory system malformationsThe use of speech therapist services is very helpful. The language can be changed and delayed, so it is necessary to take into account its difficulties and provide it with the appropriate aids. In cases where there is an intellectual disability, this should also be taken into account when adjusting the education and training of the child.


Psychological treatment and counseling for both the child and the family and educators are essential to understand the situation of the affected person and allow the expression of doubts and fears. and solve psychological and emotional problems derived from the experience of the disorder both for the child and for his environment.

Bibliographical references:

  • Beltrán, P .; Roses, N. and Jorges, I. (2004). Crouzon syndrome. Journal of Neurology. 2 (1).
  • Holes, M. (2014). Crouzon syndrome. Tower. Act. Clin. Med .: 46. Peace.
  • Liu, J .; Nam, Hong Kong; Wang, E. and Hatch, NE (2013). Subsequent analysis of the Crouzon mouse: the effects of the FGFR2 (C342Y) mutation depend on the cranial bone. Clcif. Tissue Int. 92 (5): 451-466.

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