Crouzon Syndrome: Symptoms, Causes And Intervention

At birth, most human beings have a malleable skull which allows us to come into the world through the birth canal. These bones will close and suture with age, as our brain grows in size and matures.

However, there are cases of different disorders in which said suturing occurs prematurely, which can affect both the morphology and functionality of the brain and various facial organs. One of the disorders that is being talked about in people with Crouzon syndrome, an inherited disorder of genetic origin.

Crouzon Syndrome

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

These malformations can lead to serious complications for proper brain development and the set of organs that make up the head, problems that will manifest over time as the boy or girl grows.

Symptoms of Crouzon syndrome

Symptoms usually appear around the child’s two years of age, and are generally not visible at the time of birth.

The most obvious symptoms are the presence of a bulging of the skull with the upper and/or posterior parts crushed, as well as exophthalmos or projection of the eyeball outwards due to the presence of shallow eye orbits, a compressed nasal cavity that makes breathing through this route difficult, cleft palate and other malformations facial and oral such as prognathism or forward projection of the jaw or alterations in the dentition.

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However, the most relevant and dangerous thing is breathing and eating difficulties, which can endanger your life. Hydrocephalus and other neurological disorders are also possible. The intracranial pressure is also higher than usual, and seizures may occur.

All these difficulties can cause the child to have severe problems throughout his growth, such as dizziness, frequent headaches and perceptual problems in both vision and hearing.

With regards to the eye disordersthe prominence of these causes them to be prone to infections and even atrophy of the visual system, leading to loss of vision.

Furthermore, facial malformations make it difficult to learn oral communication, which tends to cause a delay in learning. In any case, although these malformations could affect intellectual development, in most cases Subjects with Crouzon syndrome usually have average intelligence corresponding to their developmental age.

Causes of this syndrome (etiology)

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

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


Crouzon syndrome is a congenital condition with no cure, although some of its complications can be avoided and/or the impact of its consequences can be reduced. The treatment to be applied must be interdisciplinarywith the help of professionals from different branches such as medicine, speech therapy and psychology.

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In a large number of cases, part of the problems can be corrected through the use of surgery. Specifically, cranioplasty can be used to try to give the child’s head a shape that allows the normative development of the brain and in turn relieve intracranial pressure (which also allows us to largely avoid the usual headaches that people usually suffer from, a product in many cases of said pressure). It can also be used to treat possible hydrocephalus resulting from abnormal brain growth.

Likewise, it can be very useful to surgical intervention of the nasal and bucophonatory tracts, so that breathing and the passage of food through the digestive tract are facilitated and problems such as prognathism and cleft palate are resolved. Dental surgery may also be necessary, depending on the case.

The eyes can also benefit from surgical treatment, reducing exophthalmia as much as possible and thus the possibility of the visual organs becoming dry or infected.

Speech therapy and education

Due to the difficulties that may arise malformations in the phonatory system, the use of the services of speech therapists is very useful. Language can be altered and delayed, so your difficulties must be taken into account and appropriate help must be provided. In cases where there is intellectual disability, this must also be taken into account when adjusting the education and training of the minor.


Psychological treatment and counseling for both the minor, family and educators is essential in order to understand the situation of the affected person and allow the expression of doubts and fears. and the resolution of psychological and emotional problems derived from the experience of the disorder for both the child and his or her environment.