Craniosynostosis Syndromes

Signs and Symptoms

Craniosynostosis is a term that refers to the early fusing or closing of one or more of the sutures (openings) in the skull during fetal development. The skull is composed of multiple bones separated by sutures. If any of these fuse prematurely, the skull expands in the direction of the open sutures, which results in an abnormally shaped head.

Premature closure of a single suture sometimes is caused by space constraints in utero, which is why it occurs more often in twins. Single suture closure usually is not associated with a syndrome nor is it genetic in nature.

Premature closure of multiple sutures, including facial sutures, is seen in individuals with a craniosynostosis syndrome. The most common craniosynostosis syndromes are Crouzon, Pfeiffer and Apert. In these syndromes, several sutures in the head are fused, which results in abnormal head shapes. Often bones in the face also are fused, making the middle area of the face flat and the eyes protrude. Other characteristics vary by syndrome, for example children with Apert syndrome have syndactyly (webbing) of the hands and feet.

Diagnosis

Both single suture craniosynostosis and craniosynostosis syndromes are diagnosed through physical examination at birth. Tests such as MRIs, CAT scans and X-rays may be used to confirm diagnosis. In addition, a genetic evaluation helps determine if the individual's condition is isolated or occurring as part of another syndrome or condition.

Treatment

An infant with a non-syndromic (meaning not part of a specific syndrome) single suture synostosis will usually not have any functional problems, such as difficulty breathing or feeding. Surgical release of the closed suture may be necessary and if so, would usually be done during the first year of life. Surgical interventions necessary to treat single suture craniosynostosis or craniosynostosis syndromes are considered reconstructive and not cosmetic.

An infant with a craniosynostosis syndrome should be seen immediately after birth by the nurse from the Craniofacial Center, who will make sure the infant can adequately breathe and feed. Shortly after being discharged from the hospital, the child should be seen for a full team evaluation.

Skull abnormalities require early attention. Although the timing of surgical procedures varies, they are usually preformed before the baby is 6 months old.

Since a number of related problems are associated with craniosynostosis syndromes, it is important for children to be evaluated accordingly. If the child also has a cleft palate, he or she may have additional difficulties feeding (see Cleft Palate Only). A pediatric pulmonary doctor should address any breathing difficulties the infant may have. Hearing tests and speech evaluations should be conducted to insure good speech and language development. Evaluation by an ophthalmologist also is important, especially if the eyelids do not adequately protect the eyes.

For a child with Crouzon, Pfeiffer or Apert syndrome, a surgical procedure called a midface advancement brings the cheekbones and upper jaw forward, providing greater protection for the eyes and improving the child's airway. Because the upper jaw is usually too small, a child with Crouzon, Pfeiffer or Apert syndrome will have an "under bite," where the teeth tend to be rather crowded, and orthodontic treatment (braces) is therefore necessary. Timing for the midface advancement and orthodontics is based on a number of factors and may be done early in life or after growth is completed, depending on the particular needs of the child.

In addition, children with Apert syndrome also have syndactyly (webbing) of the hands and feet, which may require surgery to enhance mobility and functionality.

A child with a craniosynostosis syndrome may encounter social and emotional challenges unique to these syndromes. Support organizations and resources are available for children and their families.