It is a rare genetic birth disorder that prevents the skull from growing normally and commonly causes abnormalities of the head and neck. It is further characterized by Craniosynostosis that causes secondary alterations of the facial bones and facial structure such as a parrot-beaked nose, short upper lips, overcrowded teeth, narrow ear canals, and wide-set bulging eyes.
Its prevalence is estimated to be 1 in 25,000 births, which accounts for 4.5 % of all cases of Craniosynostosis making it the most common craniosynostosis syndrome. Other names of Crouzon Syndrome include craniofacial dysostosis, Craniostenosis, and Crozon craniofacial dysostosis.
Crouzon Syndrome is caused by changes (mutations) in any one of the 4 fibroblast growth factor receptors (FGFR), most commonly FHFR3 or FHFR 2. Genetic mutations disrupt the functioning of genes thereby increasing its activity and limiting bone growth and development of the child.
This genetic mutation can be inherited from either of the parents or can also be a new mutation (gene change) in the affected child. However, in most cases, such disorder occurs due to spontaneous mutation in the egg or sperm cells. If that is the situation, then the syndrome is not inherited from the parents.
Although most parents who have a baby with crouzon syndrome have normal genes, the child having such syndrome has a 50% chance of passing this gene on to their children.
The clinical symptoms of crouzon syndrome include:
These malformations happen due to premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and differentiated facial abnormalities. The severity of these malformations may vary from one infant to another.
Surgery is the main form of therapy for children with such disorders. Surgery is important to improve the symptoms, prevent future complications, and help in the physical, and emotional development of the child. They help in fixing a cleft lip or palate, relieve pressure inside the skull, straighten crooked teeth, correct malformed jawline, and improve vision loss. Without surgery, the child may go blind or may lose his/her intellectual ability.
A team of specialists work together to plan out the course of the treatment and needed therapies. Such specialists include plastic surgeons, oral surgeons, an otolaryngologist (ear, nose, and throat specialists), speech and language pathologists, geneticists, audiologists, psychologists, pediatric dentists, and nurses. Various surgeries that can be performed to improve the condition are:
Some doctors do not suggest a treatment for children with such syndromes if their facial structures or appearance is not causing a problem in their intellectual and learning capabilities. Also, not every parent is comfortable with giving their child so much pressure in their early childhood days, although, surgery might be necessary for a child whose life is affected by crouzon syndrome.
According to 3MEDS, the best healthcare service provider in India, people with crouzon syndrome have a normal life expectancy. As mentioned earlier, not every person with crouzon syndrome requires surgery and is physically or mentally unfit.
The doctor may look into the history of the family having a child with crouzon syndrome. Particularly because it can be a case of mild crouzon syndrome, where the parent of the child may have milder to moderate forms of the syndrome which may or may not have been diagnosed earlier. The history of the pregnancy of the mother is also important. When certain medications like valproate or fluconazole are used to treat pregnant mothers, it does have an impact on the child developing craniosynostosis.
During pregnancy, it's important for a mother to consume safe medicines. These can be availed from the best online pharmacy in India at affordable prices. Moreover, crouzon syndrome is treatable and children after the treatment do live a healthy life. I hope this article helped you.