Craniofacial Deformities

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If you are a medical student, you must be familiar with the word “Craniofacial”. Well, for those who do not know, this term is in relevance to the bones of the cranium (skull) and face. As far as Craniofacial deformities are concerned, these are the congenital defects targeting the face and skull bones. It happens when bones:

  • Fails to get combined
  • Get fused too early affecting brain growth making it small
  • Fuse in an abnormal manner

These abnormalities come with plentiful variations, ranging from mild to severe complications ending up in the need of surgery. Apparently, such conditions directly affect an individual’s facial appearance as well as the shape of the head. This is the major reason behind neurological syndromes which can be of mild, moderate, or severe level depending on the extent and location of the damage. The clinical manifestations are not limited here. A person can experience side effects and essential anomalies in other body parts. Children diagnosed with craniofacial deformities tend to face certain medical and social challenges, past the physical irregularity itself.

Possible cause

The causes of such deformities can vary but as science has evolved, the following reasons are considered significant.

  • Genetic changes – genes inherited from both or any of the parents OR faulty genes development during conception
  • Environmental – also called as external factors such as exposures to toxic matters OR use of harmful medication during pregnancy
  • Folic acid deficiency – having a drastically low vitamin B9 in the pregnancy period can be another reason as it can affect a baby’s skull and facial bone growth

Most common craniofacial abnormality

Till now, the most common Craniofacial anomalies are cleft lip and cleft palate. A cleft lip is a condition in which the lip does not form entirely. It will appear either as a lip notch in mild cases or a huge opening/gap from lip to nose in severe cases. With the cleft palate, the roof of the mouth fails to develop and does not close fully. This opening leads through the nasal cavity. One or both sides of the palates can be involved.

Medical Diagnosis

To start the diagnosis for a craniofacial abnormality, the primary action must be a detailed physical examination. Evaluating the condition physically will give a benefit of the doubt because almost every disease has its distinct visual signs. The most essential factor to be considered is the “skull measurement”. Besides, family history can play an essential role. For confirming the diagnosis, MRI, CT scans, and/or X-ray imaging are necessary to examine the skull and facial bones. Now, the last step must be to look for any neurological complications.

List of Craniofacial anomalies

A benign tumor featuring anomalous growth of vessels over the skin causing a visible red mark/birthmark. It might appear at birth or maximum by the 1st month of the child.

Well, visually, it is the most unusual deformity. As the name reflects, the skull appears triangular in trigonocephaly in adults due to the early joining of both halves of the frontal bones.

Hemifacial microsomia
Also called Goldenhar syndrome, it is a medical condition of having improperly developed or undeveloped facial tissues of only one side or might be on both sides, that leaves damaging effects on other body areas especially ear, mouth, and jaw.

Simply defined as “early closing of the soft spots (sutures) of the skull”. Premature closure leads to restricted brain and skull expansion. Along with size, it increases the pressure inside the skull making the skull’s appearance asymmetrical.

Certain defects can be observed visually due to dramatic physical effects, and it is one of them!

It is manifested with the atypical neck twisting making the head rotate and tilt at a strange angle. The reason could be stiffened neck muscles. Luckily, it can be normalized through neck exercises.

Pfeiffer syndrome
Like we mentioned earlier, it could affect other body parts, in this syndrome, along with the skull, the patient’s hands, and feet are also abnormal.

  1. Eyes will be wide and bulging out.
  2. The upper jaw fails to form completely.
  3. The nose appears to be beaked.

Crouzon syndrome

In medical terms, when the coronal suture of both sides gets fused unnecessarily and abnormally, the skull appears short from the front and the back with some facial changes such as flat cheekbones and nose, bulging eyes, receding upper jaw, protuberant lower jaw. There might be cases with teeth and jaw anomalies.

Kleeblattschadel syndrome

Pretty awkward name, I bet!
And, just like its name, it is a very rare birth anomaly. Also named cloverleaf skull, you would see fibrous sutures prematurely fused in the scanning images.

Pierre Robin syndrome
The distinguishing sign is the unusual smaller than the normal lower jaw with an ebbing chin. On examination, you can see the tongue falling back to the throat. Such symptoms make breathing difficult for the patient.


Craniofacial Surgery

A type of plastic surgery targeting the cephalic extremity, that covers the skull, the face area in particular. It will make the physical appearance of the skull better as well as set the facial bones to make the facial muscles and organs work better. It is the best treatment for craniosynostosis.

Although it is a laborious and expensive surgery, expert pediatric neurosurgeons may make the situation effectively. Skull reconstruction is one of the steps that hold the greatest power and need skills.

Midfacial surgery 

It is obligatory in some cases, particularly for patients who have problems with eating, and swallowing. Having dental malocclusion may also require this surgery. It is advised to perform it in late childhood.

Minimally Invasive Surgery

Diagnosis of the syndrome before baby crossing 3 months of age, several minimally invasive procedures including endoscopic approaches can be beneficial. It decreases the need for blood transfusions and post-surgical complications.

But, remember, you must follow the helmet therapy afterward.