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Crouzon Syndrome

Crouzon syndrome is a rare genetic disorder that is characterized by the premature fusion between certain bones of the skull and of the face. This early fusion prevents the bones from growing normally affecting the shape of the head, the appearance of the face and the relationship of the teeth.

Unlike many other craniosynostosis syndromes, Crouzon syndrome does not involve abnormalities of the hands and feet. However, Crouzon can include spine abnormalities. Crouzon syndrome is estimated to occur in 1.6 per 100,000 children.

Symptoms

The abnormal features of Crouzon syndrome occur as a result of premature fusion of the skull bones and lack of growth potential of the middle facial bones. The severity of these characteristics vary among those affected. Abnormal growth of the skull and facial bones cause wide set and bulging eyes as well as vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. Your child may also experience dental problems and hearing loss, which may also be accompanied by narrow ear canals. Hearing impairment occurs in about 55 percent of infants with some children born with no ear canals at all. Some less common symptoms include cleft lip and palate.

Some babies will also have craniosynostosis. This is a condition in which the sutures in an infant's skull close too early causing problems with normal brain and skull growth. Symptoms may include headaches and vision changes.

Neurological problems include an increased risk to develop excess fluid on the brain (hydrocephalus) or an abnormal growth on the back of the brain called a Chiari malformation.

What causes Crouzon syndrome?

Crouzon syndrome is caused by a genetic change or mutation in one of the fibroblast growth factor receptor genes. The condition can be inherited from one parent who passes the abnormal gene onto their child. There is a 50 percent chance that the gene will be passed along to a child. The condition can also occur due to a spontaneous change in the growth factor receptor gene.

Treatment

 
Skull

Our craniofacial team will evaluate your child carefully to determine the best long-term treatment plan. Surgery will likely be recommended to open closed sutures to allow for expansion and a reshaping of the skull. This is known as cranial vault expansion and reshaping. Whether your child is a candidate for this procedure will depend on the number and type of closed sutures.

An infant with multiple-suture synostosis that causes severe skull deformities may need cranioplasty surgery in the first year of life. A small percentage of these children will require a second cranioplasty.

Eyes

Children with Crouzon syndrome may develop visual impairment due to the misalignment of the eyes and increased intracranial pressure. Our craniofacial team may recommend that your child regularly see an ophthalmologist to address these issues. If your child has very shallow orbits that result in partial eyelid closure and the risk of corneal irritation known as keratitis, early midface advancement may be necessary.

Brain

Children with Crouzon syndrome may require cranial surgery depending on their symptoms. This includes children with excess fluid in the brain (hydrocephalus), children with craniosynostosis and those with a Chiari malformation.

Signs and symptoms of hydrocephalus include a soft spot, irritability or lethargy and a rapidly increasing head size. Older children may experience headaches, vomiting, vision impairment and poor performance in school. If your child has hydrocephalus, our craniofacial team may recommend surgery that involves placing a tube from the brain to the abdomen that will allow excess fluid from the brain to drain adequately.

If your child is suffering from severe recurrent headaches, he or she should be evaluated for craniosynostosis. This disorder can occur in children with a normal head shape. The headaches are caused by intracranial pressure. Cranial surgery may be recommended to alleviate this pressure.

Surgery may also be recommended for children with a Chiari malformation if they experience headaches or other neurological symptoms. This is an indication that the brain is being compressed by the base of the skull due to its abnormal shape. Surgery can alleviate these symptoms by widening the base of the skull.

Breathing

Your child's airway may be exceptionally small if your child has a small nose combined with poor midface growth. This combination can result in sleep apnea or snoring. To correct these problems, our craniofacial team may recommend a midface advancement or LeFort III osteotomy to create a larger airway. This entails surgery to move the middle portion of the face forward to align the upper and lower jaw, which enlarges the airway. Our team will determine the right timing of this surgery based on your child's symptoms, age and the severity of the jaw misalignment. This surgery may need to be repeated later in life if performed at an early age.

Midface advancements can be performed in one surgery or in a procedure that gradually moves the jaw over several months. This procedure is called distraction osteogenesis, a technique that implants a metal device in the jaw that slowly pulls the midface forward.

For children with severe sleep apnea, a procedure called adenoidectomy may be an option. This procedure involves removing the adenoids or lymphoid tissue in the back of the nose. 

 

 

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