Definition
Crouzon Syndrome is a genetic disorder. It is one of many birth defects that results in abnormal fusion between bones in the skull and face. Normally, as an infant?s brain grows, open sutures between the bones allow the skull to develop normally. When sutures fuse too early, the skull grows in the direction of the remaining open sutures. In Crouzon Syndrome bones in the skull and face fuse too early. This results in an abnormally shaped head, face, and teeth.
Crouzon disease is estimated to affect 1 in 25,000 people.
Causes
Crouzon Syndrome is a genetic disorder. It is caused by mutations (abnormal changes) of the FGFR2 (fibroblast growth factor receptor) or FGFR3 genes. It is not known exactly why these mutated genes cause Crouzon Syndrome.
Risk Factors
A risk factor is something that increases your chances of getting a disease
or condition. Those most at risk for Crouzon syndrome are children of:
- Parents with the disorder
- Parents who do not have the disorder, but who carry the gene that causes the disorder
- Fathers at an older age at the time of conception
Symptoms
The main symptoms of
Crouzon Syndrome include:
- Flattened top and back of head
- Flattened forehead and temples
- Mid-face that is small and located further back in the face than normal
- Beaked-like nose
- Compression of nasal passages:
- Often causing reduced airflow through the nose
- Large, protruding lower jaw
- Misalignment of teeth
- High-arched, narrow palate, or cleft palate
Other symptoms and complications that can result from
Crouzon Syndrome include:
- Hearing loss
- Mild mental dysfunction or retardation
- Deformity of middle ears
- Absence of ear canals
- Vision problems
- Crossed eyes or involuntary eye movement
- Curvature of the spine
- Meniere?s disease (dizziness, vertigo, or ringing in the ears)
- Headaches
- In some cases, fused joints
Diagnosis
A doctor can usually diagnosis
Crouzon syndrome at birth or in early
childhood based on the patient?s symptoms. Tests are taken to confirm the
diagnosis. These may include:
- X-rays ? a test that uses radiation to take a picture of structures inside
the body, especially bones
- MRI scan ? a test that uses magnetic waves to make pictures of the inside
of the body
- CT scan ? a type of x-ray that uses a computer to make pictures of the
inside of the body
Treatment
There is no cure for
Crouzon Syndrome. Many of the symptoms can be
treated with surgery. In addition, orthodontic treatment, eye and ear treatment,
and supportive treatment are usually needed.
Treatment may include:
Surgery ? there are a number of surgeries used to treat the symptoms of
Crouzon Syndrome. These include:
- Craniectomy ? removal and replacement of portions of the cranial bone.
This surgery is done as early as possible after birth to:
- Prevent pressure on and damage to the brain
- Maintain a skull shape that is as normal as possible
- Surgery to treat exophthalmos (protrusion of one or both eyeballs). This
surgery:
- Is done directly on the eye sockets or on the bones surrounding the eye
sockets
- Can help minimize, but cannot totally eliminate exophthalmos
- Surgery to treat protruding lower jaw. This surgery:
- Removes a portion of the jaw bone
- Is often very successful in normalizing the appearance of the jaw
- Surgery to repair a cleft palate
Orthodontic treatment ? braces and other orthodontic treatments are
usually necessary to help correct misalignment of teeth.
Eye and ear treatment ? an ophthalmologist (eye specialist) and
otolaryngologist (ear, nose, and throat specialist) should monitor infants and
children with
Crouzon Syndrome. These specialists can check for problems
and provide corrective treatment as necessary.
Supportive treatment ? this includes special education for children with
a mental deficiency or mental retardation.
Prevention
There is no known way to prevent Crouzon Syndrome. If you have
Crouzon Syndrome or have a family history of the disorder, you can talk to a
genetic counselor when deciding to have children.