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Craniofacial Disorder

The normal skull of an infant consists of several plates of bone separated by fibrous joints, called sutures. When a child is born, these joints are soft, which aids in the birthing process and allows for growth. As an infant grows and develops, these joints close, forming a solid piece of bone – the skull. Craniofacial disorder is a condition in which one or more of these joints close too early, a condition referred to as craniosynostosis. All forms of craniosynostosis cause abnormal skull shapes depending on the location and timing of early closure. In isolated craniosynostosis only a single suture is involved as compared with syndromic craniosynostosis, in which multiple sutures and other parts of the skeletal system are affected. Only rarely in the most severe cases of syndromic synostosis is the pressure inside the head affected due to limitation of brain growth. Craniosynostosis is frequently confused with another more common form of asymmetric head shape, positional plagiocephaly. This benign condition is also referred to as positional molding – a flattening of the back of the skull or one side of the skull caused by sleeping in one position. In developmentally normal children, this condition always partially or completely resolves with advancing age.

Causes

Craniofacial disorder is a congenital birth defect that occurs in one out of 2,000 live births. The condition is a feature of many different genetic syndromes with a variety of inheritance patterns and chances for recurrence, depending on the specific syndrome present. Most often, this condition occurs as the result of a chance mutation, but in some families it may be passed from parent to child. Depending on the nature of the genetic defect, a child having one parent with craniofacial disorder may have a 25 - 50 percent chance of having the defect.

There are numerous types of this condition, among which are:

• Scaphocephaly (dolichocephaly): the most common form of single suture synostosis is caused by early closure of the fibrous joint that runs front to back, down the middle of the top of the head (the sagittal suture). Most common in males, this fusion causes a skull that is long from front to back and narrow from ear to ear. There is no known association with abnormal brain development.
• Trigonocephaly: a fusion of the fibrous joint that runs from the top of the head down the middle of the forehead toward the nose (metopic suture). Early closure of this suture may result in a prominent ridge running down the forehead. Sometimes, the forehead looks pointed like a triangle, with closely spaced eyes (hypotelorism).

Symptoms

In infants with this condition, changes in the shape of the head and face may be noticeable. In particular, one side of the face may appear different from the other. Other clinical findings may include a full or bulging soft spot, sleepiness, prominent scalp veins, irritability, high-pitched crying, poor feeding, increasing head circumference, and bulging eyes. When the closure of the sutures affects brain development or increases pressure in the skull, it may cause headaches, vomiting, visual loss, seizures, developmental delays, and mental retardation.

Diagnosis

Diagnosis of craniofacial disorder is made with the following procedures/information:

• Physical examination
• Complete prenatal and birth history
• Family history
• Assessment of developmental milestones; craniofacial disorder can be associated with other neuromuscular disorders
• Plain X rays
• Computed tomography (CT) scan (3-D)

Treatment

Surgery is usually the recommended treatment. The goal of surgery is to reduce the pressure in the head, release the closed joint, and correct the deformities of the face and skull bones. In some cases these deformities will become less noticeable over time without surgery. If surgery is desired or deemed necessary, it is usually recommended within the first year of life since the infant's bones are soft and more easily remodeled. The exact timing of surgery is dependent on the type of synostosis.

Get more information on the Weill Cornell Craniofacial Program.