Craniofacial Disorders Advanced Neurosurgery Associates January 28, 2021

Craniofacial Disorders

About Craniofacial Disorders


Craniofacial refers to the bones of the skull and face, which can incorrectly develop and create facial or head malformations. Some common craniofacial disorders are cleft palates, cleft lips, and craniosynostosis.


The brain grows rapidly in utero and during the first three years of life. Infants born at term have nearly 40 percent of their adult brain volume, and this increases to 80 percent by age of three. The growth of skull bones is driven primarily by the expanding growth of the brain.


The skull of an infant or young child is made up of bony plates that allow for the skull’s growth. These well-formed skull bones are separated by strips of connective tissue, sutures and fontanelles (the soft spots on top of the head). The borders at which these plates intersect are called sutures or suture lines. The soft areas fuse together during the first six to 18 months until the skull is one piece.


The sutures and fontanelles close at different times. When these plates fuse together too soon or in an abnormal way, it can cause malformations in the skull or facial bones. For example, the early closing of a suture causes the baby to have an abnormally shaped head.


These malformations can cause neurological damage, as the brain continues to grow and has no space to expand. Surgery may be required to create room for your child’s growing brain, or to revise the shape of the face and skull.


Symptoms of Craniofacial Disorders

Craniofacial disorders can arise from a birth defect, disease or trauma. With numerous types of craniofacial syndromes, symptoms vary depending on the type of disorder and the severity.


In general, you might notice the below symptoms:

  • Head or skull deformities and unusual shapes
  • Speech difficulties
  • Dental or jaw problems
  • Sight and hearing problems
  • Struggles with breathing


Craniosynostosis is one of the most common types of craniofacial disorder. It is not uncommon for babies to be born with abnormal head shapes. That does not always indicate the presence of craniosynostosis. The position of the head of the fetus or trauma at birth may cause an abnormality that will self-correct.


With craniosynostosis, however, the abnormality worsens over time. In fact, babies with these anomalies can appear to be doing well at first, which can cause parents to wonder whether surgery is necessary. If left untreated, the head could continue to grow abnormally and in some cases lead to increased pressure in the brain.


Causes of Craniofacial Abnormalities

There can be several conditions that contribute to craniofacial disorders:

  • Genetics – craniofacial disorders can be hereditary or result from a gene mutation after conception.
  • Folic acid deficiency – studies show that the risk of certain craniofacial disorders, such as cleft lip or cleft palate, increases when pregnant women do not receive sufficient folic acid.
  • Other factors – ongoing research continues to determine whether exposure to certain drugs or chemicals causes craniofacial conditions.


craniofacial disorders diseases abnormalities

What is Craniosynostosis?

A normal skull consists of several plates of bone that are separated by loose connections called sutures. This loosely connected bone permits the young skull to grow in concert with the maturing brain. Craniosynostosis is an abnormality that causes one or more sutures on a baby’s head to close earlier than normal. Craniosynostosis leads to a restriction in the growth of the skull which can cause unusual head shape, unusual facial features and in rare cases, damage to the brain due to increased pressure inside the skull.


There is usually no family history of the condition. However, premature birth and low birth weight have been associated with craniosynostosis. There is a hereditary component in such genetic disorders commonly linked to craniosynostosis, including Crouzon, Apert, Carpenter, Chotzen, and Pfeiffer syndromes. Despite the resulting abnormalities caused by the condition, most children with craniosynostosis are otherwise healthy and have normal intelligence.


Commonly, craniosynostosis is present at birth, but it is not always diagnosed when mild. Usually it is diagnosed as a cranial deformity in the first few months of life. The diagnosis relies on physical examination and radiographic studies, including x-rays and computed tomography (CT).


Symptoms depend on the type of craniosynostosis. In infants with this condition, changes in the shape of the head and face may be noticeable. The appearance of the child’s face may not be the same when compared to the other side. Other clinical findings may include the following:

  • a full or bulging fontanelle (soft spot located on the top of the head)
  • a raised hard ridge along the affected sutures
  • unusual head shape
  • increasing head circumference
  • slow or no increase in the head size over time as the baby grows
  • sleepiness (or less alert than usual)
  • scalp veins very noticeable
  • increased irritability
  • high-pitched cry
  • poor feeding
  • projectile vomiting
  • seizures
  • bulging eyes and an inability of the child to look upward with the head facing forward
  • developmental delays


If your child’s pediatrician has expressed concern, if you feel for any reason that your child’s head shape is unusual or not growing well, or if he/she displays the above signs or symptoms, contact us at Advanced Neurosurgery Associates. In the meantime, you can see the results of treatment for this condition on a revealing patient video: