Definition

What is Crouzon syndrome?

Crouzon syndrome is a genetic pathological condition in which there is premature fusion of some skull bones 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.

How common is Crouzon syndrome?

Crouzon syndrome is not common. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Crouzon syndrome?

The common symptoms of Crouzon syndrome are:

  • Abnormal facial shape
  • Frontal bossing
  • High forehead
  • Multiple suture craniosynostosis
  • Arnold-Chiari malformation
  • Brachycephaly
  • Cerebellar hypoplasia
  • Conductive hearing impairment
  • Conjunctivitis
  • Hypertelorism
  • Hypoplasia of the maxilla
  • Increased intracranial pressure
  • Midface retrusion
  • Proptosis
  • Ptosis
  • Strabismus
  • Turricephaly
  • Abnormality of the sacrum
  • Acanthosis nigricans
  • Amblyopia
  • Choanal atresia
  • Convex nasal ridge
  • Headache
  • Hydrocephalus
  • Hypopigmented skin patches
  • Intellectual disability
  • Iris coloboma
  • Melanocytic nevus
  • Narrow internal auditory canal
  • Narrow palate
  • Optic atrophy
  • Respiratory insufficiency
  • Abnormality of the cervical spine
  • Abnormality of the nasopharynx
  • Atresia of the external auditory canal
  • Autosomal dominant inheritance
  • Coronal craniosynostosis
  • Craniofacial dysostosis
  • Dental crowding
  • Dysgerminoma
  • Lambdoidal craniosynostosis
  • Mandibular prognathia
  • Sagittal craniosynostosis
  • Seizures
  • Shallow orbits
  • Sleep apnea
  • Visual impairment

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

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.

Risk factors

What increases my risk for Crouzon syndrome?

Crouzon syndrome is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

There is nothing that either parent can do, before or during a pregnancy, to cause a child to be born with Crouzon syndrome.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Crouzon syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 29, 2018 | Last Modified: January 29, 2018

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