Crouzon Syndrome is named after the French neurosurgeon Dr. O. Crouzon who was the first to identify it in 1912. It is a genetic defect caused when the bones of the skull fuse together prematurely, causing distorted facial features. It belongs to the family of craniosynostosis syndromes such as Apert’s syndrome but differs from them in the way that it does not cause deformity in any other part of the body such as hands and feet. It is only caused due to abnormal fusion of skull bones and facial bones such that the facial bones do not develop properly, thus affecting the shape of the head as well as dental structure.
The cause for Crouzon Syndrome is genetic abnormality in a gene called FGFR2. This gene prompts the production of a vital protein in the baby’s body while it is still developing in the womb which signals the formation of bone cells. Due to mutation in this gene, sometimes the protein is produced before its normal time resulting in premature formation and premature fusion of bone cells which causes Crouzon Syndrome.
Crouzon Syndrome can be identified through the following symptoms or characteristics :
- The shape of the head is abnormal such that it is tall and narrow from front to back, also characterise by a high forehead.
- The eyes are wide-set and bulging out. The eye sockets are extremely shallow because of which eyes may also point in opposite directions and not look straight.
- The jaw is underdeveloped such that the upper jaw is significantly smaller while lower jaw juts out.
- The shape of the nose is often described as beaked, hooked or curved.
- There is significant loss in hearing capacity though there are very rare cases in which a child with Crouzon Syndrome is born deaf.
Crouzon Syndrome has such pronounced characteristic which disfigure a face so completely that one does not really need signs to notice that it is a genetic defect. However, it can be distinguished from other similar craniosynostosis syndromes due to the fact that its effect is limited to only facial features and no disfigurement of any other body part is caused. The most prominent sign of Crouzon Syndrome is the eyes which are abnormally large and bulging out and often point in different directions. A hooked or curved nose, along with a general concave look of the face are signs enough for identifying this syndrome.
Generally, the symptoms of Crouzon Syndrome are so apparent that a doctor can be 99% sure of the genetic mutation without a single test. However, since it is a genetic defect, he can recommend a genes test. Some other imaging tests which the doctors conduct to study the exact deformity of the bone structure are:
- CT Scan
- MRI Scan
The first step to diagnosing this syndrome is a general physical examination of the child’s head which may or may not be accompanied by an ECG. The doctor would like to examine and study the unique characteristics of Crouzon Syndrome in detail before moving on to imaging tests. An x-ray is the most basic test and will definitely be conducted.
A CT scan which is an advanced imaging test and produces cross-sectional images of the body part will also be done by the doctor in all probability. An x-ray of the spine as well as of hands is also usually done. Just to be sure it is not another form of craniosynostosis, sometimes a full body x ray is also recommended. Many a times, doctors also conduct genetic testing to study the abnormal genetic mutations which caused the syndrome.
Crouzon Syndrome is a genetic defect which means the baby is born with such a deformity. The ideal solution for this is to get a plastic surgery of the face done while the baby is less than a year old. Once the facial bones have been moved to their right positions, the features adjust themselves accordingly and as the child grows up, most traces of surgery become unnoticeable. People with this syndrome do not generally suffer from any other abnormal health problem and live a normal life span.
Since it is a genetic defect which causes abnormal mutations on Chromosome 10, there is nothing much that you can do to prevent it. If you have a family history of this syndrome, then you can get the baby tested for signs of this syndrome while it is still in the womb which will give you time to prepare for the deformity.
Crouzon syndrome can be classified into two types :
- Classic Crouzon Syndrome – This is the most common type of this syndrome which results in deformity of only the skull and facial features including eyes, nose and jaw.
- Crouzon Syndrome with Acanthosis Nigricans (AN) – This type occurs very rarely in children accounting for less than 10% of total Crouzon Syndrome cases. The distinguishing feature of this is that apart from the deformed skull, AN also affects other body parts by causing dark patches on the face, armpits or stomach.
Because of the distorted facial features like eyes, nose and dental structure, the functioning of these organs is severely affected. There is a marked reduction in the vision of the eyes as well as the inability to see straight. In almost all cases of Crouzon Syndrome, patients suffer from a 50-60% loss of hearing. The abnormal size and structure of the jaw results in crowding of teeth and a narrow palate which can result in a lot of dental problems throughout the life. Babies also tend to have difficulty in breathing since the shape of the nose is not normal and they cannot breathe through their mouth.
Home Remedies :
Since surgery is the only option for fixing the deformities caused due to this syndrome, there are no home remedies for this. One can however ensure that the child receives a lot of care and attention and is well looked after.
Treatment for Crouzon Syndrome can be both surgical and non-surgical depending upon the severity of the deformity. Orthopaedic treatment is recommended only when the disfigurement of the face is minor and chances are that it can be fixed without surgery. But in 90-95% cases, surgical treatment is the only way. Separate surgeries are required for repositioning the bones of the eyes, nose and jaw such that the process of treatment can last from 1 to 2 years. It is advised that these surgeries should be conducted as soon as possible after the baby’s birth. The later the surgeries are conducted, the lesser is their effectiveness and the treatment process is also more painful.
Crouzon Syndrome with Acanthosis Nigricans :
This is an extremely rare genetic defect which accounts for only 5-10 percent of the total Crouzon Syndrome cases. It is caused due to the mutation of FGFR3 gene. It causes the appearance of darkened skin patches throughout the body but particularly prominent in folds of the body like neck, elbows, knees and armpits. While the Crouzon Syndrome is diagnosed at the time of birth itself, the symptoms of Acanthosis Nigricans appear much later after the child has turned 2 years old. It is a dermatological effect of the Crouzon syndrome and does not have any treatment which is popularly followed.