Crouzon Syndrome: Causes, Symptoms, Treatment, Prognosis

What is Crouzon Syndrome?

Crouzon Syndrome is a genetic pathological condition in which there is premature fusion of some skull bones. This condition in medical terms is called as craniosynostosis. This premature fusion of the skull bones prevents the skull from growing normally in a child resulting in a deformed shape of the head and face. Due to the premature fusion of skull bones, children with Crouzon Syndrome have wide and bulging set eyes giving rise to vision problems and strabismus. Additionally, individuals with Crouzon Syndrome tend to have certain dental problems as well as hearing disorders. Some people with this disorder also tend to have a cleft lip and a cleft palate. Crouzon Syndrome does not affect the intelligence or mental capability of the affected individual. How severe the symptoms of Crouzon Syndrome are differs from individual to individual.

What is Crouzon Syndrome

What Causes Crouzon Syndrome?

The main cause of Crouzon Syndrome is mutation in the gene FGFR2. The function of this gene is to make a protein called fibroblast growth factor receptor 2. This protein facilitates development of immature cells to become bone cells during embryonic development and hence when there is a mutation in FGFR2 gene it results in the protein to be absent and hence the immature cells are not able to become bone cells resulting in the immature skull bones to fuse together causing Crouzon Syndrome with its associated symptoms.

What are the Symptoms of Crouzon Syndrome?

Some of the symptoms of Crouzon Syndrome are

  • Deformed or misshapen head with the head being wide across the front and short from front to back
  • Bulging wide-set eyes
  • Facial bone deformities
  • Jaw deformities like a protruding lower jaw
  • Sleep Apnea
  • Problems breathing due to facial deformities caused by Crouzon Syndrome.

How is Crouzon Syndrome Diagnosed?

The diagnosis of Crouzon Syndrome can be made easily at birth looking at the physical features of the newborn baby with its classical sign of a misshapen head. Since skull deformities form a part of other disorders as well the doctor may do other tests as well along with a genetic test to look for mutation in the FGFR2 gene to confirm the diagnosis of Crouzon Syndrome. For this, the child may have to undergo radiological studies in the form of x-rays of the skull to look for fused bones. A CT or an MRI scan will also be done for a clearer picture of the skull to see if there is fluid in the skull, any signs of fused skull bones, or pressure inside the skull to confirm the diagnosis of Crouzon Syndrome.

How is Crouzon Syndrome Treated?

There is no specific medication as of yet for definitive treatment of Crouzon Syndrome, although with the advancement of medical science there are certain treatment methodologies which can be used to treat this condition. These methodologies are:

  • For vision and hearing problems in Crouzon Syndrome, there are hearing aids which can be placed to allow the patient to hear and see clearly.
  • Airway Pressure Device can be used to take care of any airway obstructions, as it clears the airway and allows normal breathing in patients suffering from Crouzon Syndrome.
  • Speech therapy may be useful in case if the Crouzon Syndrome patient shows any signs of mental regression.

There are also surgical options available for treatment of certain deformities caused by Crouzon Syndrome. If diagnosed early, an eye surgery may help the patient get rid of vision problems caused due to Crouzon Syndrome. Similarly, an ear surgery may help the patient hear more clearly. The surgery of choice to help with the hearing problems due to Crouzon Syndrome is known as myringotomy. Tracheostomy can be done for patients with airway pressure problems and problems with breathing due to Crouzon Syndrome.

What is the Prognosis of Crouzon Syndrome?

The prognosis of an individual with Crouzon Syndrome is not that bad and patients with this disorder can live up to 60 years of age albeit with significant symptoms, although this differs from individual to individual. In case if the condition is diagnosed early and surgical treatments are carried out then the patient can lead a normal life despite suffering from Crouzon Syndrome.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:May 8, 2017

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