At birth, most human beings possess a malleable skull which allows them 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 such suturing occurs prematurely, which can affect both the morphology and the functionality of the brain and various facial organs. One of the disorders being discussed is Crouzon syndrome, an inherited disorder of genetic origin.

Crouzon Syndrome

Crouzon syndrome is a disease of genetic origin characterized by the presence of a craniosynostosis or suture of the bones of the premature skull. 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 cause serious complications for the correct development of the brain and the set of organs that make up the head, problems that will become apparent over time as the child grows.

Symptoms of Crouzon syndrome

Symptoms usually appear around the child’s second birthday, and are not usually visible at birth.

The most evident 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 towards the outside due to the presence of shallow eye orbits, a compressed nasal cavity that makes breathing difficult through this route, cleft palate and other facial and oral malformations such as prognathism or forward projection of the jaw or alterations in 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 child to have severe problems such as dizziness, frequent headaches and perceptual problems in both vision and hearing throughout his or her growth.

With regard to the ocular disorders , the prominence of these causes them to be prone to infection and even atrophy of the visual system, and they may lose their vision.

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

Causes of this syndrome (etiology)

As mentioned above, Crouzon syndrome is a congenital and hereditary disorder, with a genetic origin. Specifically, the cause of Crouzon 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 in the skull.

This is an autosomal dominant disease , so a person with this mutation has a 50% chance of transmitting this disease to his or her 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 should be interdisciplinary , with the help of professionals from different fields such as medicine, speech therapy and psychology.

Surgery

In a large number of cases some of the problems can be corrected by the use of surgery. Specifically, cranioplasty can be used to try to give the head of the child a shape that allows the regulatory development of the brain and in turn relieves the intracranial pressure (which also largely prevents the usual headaches that often suffer, product in many cases to such pressure). It can also be used to treat possible hydrocephalus resulting from abnormal brain growth.

Likewise, surgical intervention of the nasal and oral cavity can be very useful, in order to facilitate breathing and the passage of food through the digestive tract and to solve problems such as prognathism and cleft palate. Dental surgery may also be necessary, depending on the case.

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

Speech Therapy and Education

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

Psychotherapy

The psychological treatment and counselling of the child, the family and the educators is fundamental in order to understand the situation of the affected person and to allow the expression of doubts and fears and the resolution of psychological and emotional problems derived from the experience of the disorder both for the child and for his or 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. Act. Med.: 46. La Paz.
  • 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.