Crouzons Syndrome

My partner Kiall and his brother both have crouzons syndrome, they were born to young parents and have no history of it in the family. This article by no means delivers sure fire ways of avoiding this rogue genetic disorder.

Crouzons Syndrome is a rare craniofacial syndrome in which the bones in the skull grow abnormally. There are several plates of bone that make up the skull. Normally when a child is born they are not joined this helps the skull expand to make room for the growing brain as well as during the vaginal birth process. in a child affected by crouzons, the sutures or seams between bones fuse and thus, the brain has no room to grow. The bones in the front of the face can also be malformed cartilage can replace bone making it dangerous as a toddler (Kiall's brother exhibited this symptom) cleft pallet is also common and may require separate surgery.

Other craniosynostotic symptoms include

* Underdeveloped bones in the skull and jaw which can cause sunken cheekbones

* Ocular Proptosis which causes the eyes bulge due to the sockets being shallow

* Wide-set eyes ( i found this trait can be passed on separately from the crouzons gene abnormality because neither of my kids have crouzons but they do have the wide set eyes... weird huh?)

* The airways can become obstructed due to a cleft palate or a raised roof of the mouth, (that’s why Kiall snores... He's snoring now I can hear him from the other side of the house lol)

* Mongoloid characteristics are also common and are especially obvious when they are young but generally fade with age.

The syndrome occurs due to a rogue gene, it can be inherited, (in situations where one parent is affected there is a fifty percent chance of passing it on due to it's autosomal dominant genetic characteristic) or it can occur due to DNA mutation. Recent studies have shown that the increase in crouzons affected babies over the last twenty years, along with many other rogue genetic disorders, stem from the increase in paternal age. As an example, there are twenty three miotic divisions of sperm cells per year on average past puberty which equates to three hundred and eighty divisions of the DNA over the life of a thirty five year old man. This works in a similar way to making copies of copies on a photocopier, after a while the image will ultimately degrade, as does DNA from each division.

If you or your partner is over the age of forty at the time of conception or you have a predisposition to giving birth to a crouzons affected child, you may be referred to a genetic councillor. An amniocentesis and/or additional ultrasounds is the recommended test for prenatal diagnosis of this and other syndromes. once the child is born (depending on the severity of the abnormality, you may require a c-section, rather than vaginal delivery) some of the test that your child may have will include, CT scans, x-rays, ophthalmologic (eye and sight tests), hearing, speech and psychological assessment (after the first year) and MRI scans.

Once all the diagnosis have been made by your team of specialists craniofacial multiple staged surgery during the course of the first year may be recommended to allow the brain to grow. During these surgeries the skull is reshaped, depending on the severity of the deformity, jaw surgery may also be recommended, the outcome is usually improvement in the breathing and hearing of the patient and can bring normality to appearance in less severe cases. (Personally I think Kiall is just as gorgeous as ever...lol)

In conclusion, please do not fear these and other genetic syndromes instead become knowledgeable of them. The bullying that my Kiall suffered from people who didn't understand this aspect of his life should not have been suffered by any child. Also, do not take one persons word against the wealth of knowledge available to us. Kiall’s mum was told at the age of 16 and then again at 21 that her unborn children would not walk, talk or be functioning members of society... How wrong they were.