It is a rare genetic disorder in baby’s there are many of the flexible seams in a baby’s skull that turn to bone and fuse too early. Why this happens, so we will tell you the causes of crouzon syndrome. The early fusion of the baby skull is the hallmark of a group of conditions called craniosynostoses.
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Generally, sutures in a baby’s skull are stayed open to let the brain grow. But when these sutures close too early and the baby’s brain keeps growing, then the baby’s skull and face can become misshapen.
Causes of Crouzon Syndrome
The crouzon syndrome happens by the mutations in one of the four FGFR genes. Generally, it affects the FGFR2 gene, and also less often the FGFR3 gene. Your Genes carry the instructions for making the proteins that direct your body’s functions and the Mutations can affect whatever functions a specific protein has. The full form of FGFR is the fibroblast growth factor receptor. The FGFR2 codes for a protein called fibroblast growth factor receptor 2.
When a baby develops in the womb, then this protein signals bone cells to form. When it comes to Mutations, so this gene amp up the signal, increasing bone development and causing the baby’s skull to fuse too soon.
According to the experts, a baby only needs to inherit one copy of the gene mutation from a parent to get Crouzon syndrome. In case, you have this condition, each of your children has a fifty-fifty chance of inheriting it. Then this inheritance pattern is called autosomal dominant.
Till now, about 25 to 50 percent of people with Crouzon syndrome, the mutation of gene happens spontaneously. In that cases, babies do not need to have a parent with Crouzon syndrome to get the disorder.
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Symptoms Of Crouzon Syndrome
The symptoms of crouzon syndrome include:
- Enlarged forehead
- Short and wide or long and narrow head
- Bulging eyeballs
- Widely spaced eyes (Difference in both eyes)
- Crossed eyes (strabismus)
- Baby’s eyes in two different directions
- Eyelids that slant downward
- Flattered cheeks
- Curved, beak-like nose
- Short upper lip
- The small, poorly developed upper jaw
- Crowded teeth
- Lower jaw protruding
Sometimes symptoms may be more severe in babies than in others. We told the causes of crouzon syndrome then we will also tell you what’s the available treatment.
How it is Diagnosed?
To diagnose the crouzon syndrome doctor will usually examining the patient. In some cases, genetic testing is also done to confirm the diagnosis. The doctor may also suggest for X-ray, MRI, and CT scan.
Treatment For Crouzon Syndrome
Those children have mild crouzon syndrome then they do not need treatment. But in more severe cases children’s parents have should see craniofacial specialists, doctors who treat disorders of the skull and face.
When there is a more severe case, then the doctors perform surgery to open up the sutures and give the brain room to grow. Once the surgery, the doctor recommends to kids will need to wear a special helmet for a few months to reshape their skull.
Surgery can also be done to:
- Fix a cleft lip or palate
- Relieve pressure inside the skull
- Correct eye problems with surgery
- Correct a malformed jaw
- Straighten crooked teeth
- Kids with hearing problems can wear hearing aids to amplify the sound
- In some kids with this condition may also need speech and language therapy
Crouzon syndrome can be detected before birth?
After you know the causes of Crouzon syndrome. Parents asked this question. It cannot be detected before birth. Till now it is diagnosed at birth, based on the appearance of your child’s face and skull.
What is the Life Expectancy?
Children with Crouzon syndrome have a normal life expectancy. In most cases, children with this condition are unaffected intellectually. Still, it can alter the shape of the face and cause vision and hearing problems.
When we are talking about how rare it is. It is estimated to affect about 1.6 in 100,000 people in the general population. In case your kid has Crouzon syndrome then treatment is also available, you don’t need to worry about it.
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