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How to identify the symptoms of Crouzon syndrome?

How to identify the symptoms of Crouzon syndrome?

Crouzon syndrome is a type of genetic disorder which is brought about due to mutation of a special gene. They affect the manner of growth, division of special cells of body. In this article we delve in definition, diagnosis, symptoms, prevention and perspective of Crouzon syndrome.

Crouzon syndrome is an acute case of craniosynostoses syndrome which has been described in 1912. When Crouzon syndrome appears at infancy and without bad look in a mild manner, and it doesn’t exist among parents and other family member, identifying this genetic disorder would be challenging. Therefore, one should consider the abnormal shape of head of infants, and even mild bad look and parents should be informed of symptoms of Crouzon syndrome.  

This article delves in explanation, identifying, symptoms and methods of prevention and behavior of Crouzon syndrome.

What does Crouzon syndrome mean?

Human skull is made up of many bony plates. When we are born, these bony plates are not merged as yet fully. The place of binding of these bony plates are called skull suture.

After birth and during growth, these sutures are merged together to some extent. When the head growth is halted, these sutures are welded fully together. When the sutures are merged before birth, the infant is born with craniosynostoses. These syndromes affect on one or more sutures.

When some sutures are affected fully, the syndrome is identified as complex craniosynostosis. This may be a part of syndrome.

When the crown sutures are merged before birth, we encounter the Crouzon syndrome. This syndrome gives rise to disfiguration of skull and affect the bones of middles part of the face. Due to Crouzon disease, cheek and upper jaw bones can’s grow suitably and in right direction toward skull. The bones around the eye are widened and cause bulging of eye.

Crouzon syndrome

What is the cause of Crouzon syndrome?

Crouzon syndrome is a genetic disorder and is brought about turning a special gene off. The afflicted genes are FGFR2 and FRGR3 genes. They affect growth model, division and death of special cells. This genetic disorder can be transferred from parents to child, however in most cases, they are grown in a scattered manner, if the parents are afflicted by syndrome, one fourth of their child may be afflicted. most people that don’t afflict this disease due to their parents’ affliction, the genetic turning off may occur in gene of egg cell or sperm.


Patient population

This rare genetic disorder can afflict both female and male persons. Some medical articles have reported that men are afflicted more than women. It is estimated that Crouzon syndrome afflict 1.6 person among every 100,000 people. All of craniosynostosis afflict one person among every 2000 to 25000 births that survive.

Symptoms of Crouzon syndrome

The children with Crouzon syndrome have a special look because the skull plates are welded very early and the bones of middle part of face don’t grow suitably toward the skull. The degree of welding is differed from a child to child and can be mild or severe.

If the welding is severe, people need urgent treatment. Because, the welding of skull plates increases the intracranial pressure.

Also, there is risk of increasing of hydrocephaly. Hydrocephaly is referred to halt of circulation of cerebrospinal fluid. When the intracranial pressure is increase, the cerebrospinal fluid is built up inside cerebral ventricles.  

The outcome of this genetic disorder is that the bones of middle part of face don’t grow properly. When these bones don’t grow properly the respiratory duct is narrowed and respiratory problems arise.

The cases with this disease may suffer from sight problems because pupil and eyelids of eye are not protected.

Since the ear duct is also narrowed, the probability of auditory problems arises in the people with this syndrome.

Due to this syndrome, dental problems like excessive increase of number of teeth also arises.

Crouzon syndrome

Diagnosis of Crouzon syndrome

Since the children with this syndrome have a special look, there is no need to a special test for identifying this syndrome. For supervising the bones growth before, during and after the growth, some CT, X-ray and MRI tests are used.

If parents of patient decide to have child, one uses genetic tests for identified turned off genes.

Future of Children and youth with Crouzon syndrome.

The future of these children can vary totally. Because, depending on various factors like severity of disease symptoms and effects of the syndrome on their body performance including breath, sight and hearing.

Most of children born with this syndrome need long term care especially during childhood growth.

The surgery usually takes place when the children are in the first decade of 20 years old and the growth of their face has been complete. The most important point about afflicted children is their normal intelligence. They can cope the school and university quite well.


Today Crouzon syndrome is not preventable, but the studies still are striving for preventing the genetic disorder which gives rise to this syndrome.

A study in 2006, done on animal cells, reported on a treatment which promised the prevention of this syndrome.

The goal of this treatment is prevention of formation of sutures which causes welding in the embryo skull in the childhood period.

Potential treatment is not accomplished and no test is done on human and animal.

Crouzon syndrome

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