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 be closing and suturing with age, as our brain grows in size and matures.

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

Crouzon Syndrome

Crouzon syndrome is a disease of genetic origin characterized by the presence of a premature craniosynostosis or suturing of the skull bones. This closure causes the skull 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 suppose serious complications for the correct development of the brain and the set of organs that make up the head, problems that will manifest over time as the child grows.

Symptoms of Crouzon syndrome

Symptoms usually appear around the age of two in the minor, and are not generally visible at birth.

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

However, the most relevant and dangerous are breathing and eating difficulties, which can be life-threatening. Hydrocephalus and other neurological disorders are also possible. Intracranial pressure is also higher than usual, and seizures may occur

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

Regarding the eye disorders, the prominence of these causes them to be prone to infections and even atrophy of the visual system, being able to lose vision.

In addition, facial malformations make it difficult to learn oral communication, which tends to cause a delay in their learning. In any case, despite the fact that these malformations could affect intellectual development, in most cases subjects with Crouzon syndrome tend to have average intelligence corresponding to their developmental age.

Causes of this syndrome (etiology)

As mentioned above, Crouzon syndrome is a congenital and inherited disorder of genetic origin. Specifically, the cause of this syndrome can be found in the presence of mutations in the FGFR2 gene, or 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 disease, so that a person with this mutation has a 50% chance of transmitting this disease to their offspring.

Treatment

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

Surgery

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 head of the minor a that allows the normative development of the brain and relieve intracranial pressure in turn (which also makes it possible to largely avoid the usual headaches that they usually suffer, in many cases a product of said pressure). It can also be used to treat possible hydrocephalus resulting from abnormal brain growth.

Likewise, the surgical intervention of the nasal and orophonatory tracts, so that breathing and the passage of food through the digestive tract are facilitated and problems such as prognathism and cleft palate are solved. 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 can cause malformations in the phonatory system, It is very useful to use the services of speech therapists. The language can be altered and delayed, so it is necessary to take into account their difficulties and provide the appropriate help. In cases where there is intellectual disability, this must also be taken into account when adjusting the education and training of the minor.

Psychotherapy

Psychological treatment and counseling for both the minor and the 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 her environment.

Bibliographic references:

• Beltrán, P.; Rosas, N. & Jorges, I. (2004). Crouzon syndrome. Journal of Neurology. 2 (1).

• Hoyos, M. (2014). Crouzon syndrome. Rev. Act. Clin. Med.: 46. Peace.

• Liu, J.; Nam, H.K.; Wang, E. & Hatch, N.E. (2013). Further analysis of the Crouzon mouse: effects of the FGFR2 (C342Y) mutation are cranial bone-dependent. Clcif. Tissue Int. 92 (5): 451-466.