Craniosynostosis is a condition in which the sutures (growth seams) in an infant’s skull close too early, causing problems with normal brain and skull growth. Syndromic craniosynostosis is caused by an inherited or genetic condition and characterized by a collection of distinct facial and body anomalies that have a common cause. It can range from mild to severe.
While each syndrome has its own specialized characteristics, many share several common features, including skull deformities, midface deformities, wide-set or bulging eyes and a depressed nasal bridge. One common skull deformity that can occur with any of the syndromes is called a cloverleaf skull anomaly. The name comes from a tri-lobar skull shape that looks like a cloverleaf, accompanied by high forehead, prominent and wide-spaced eyes and low-set ears.
Because the craniofacial features can be very similar for these types of syndromes, the presence of limb and hand abnormalities such as short limbs, fused fingers or extra fingers or toes can be a differentiating factor in determining the accurate diagnosis.
Syndromic craniosynostosis is most commonly found in:
Patients with syndromic craniosynostosis often have related health and developmental issues, reinforcing the need for coordinated, multidisciplinary care and access to a variety of pediatric subspecialists.
Complications include hydrocephalus, sleep apnea, eye exposure issues when the eyelids can’t close completely and airway compromise that may require tracheostomy. Patients with Apert syndrome may have associated intellectual or developmental disabilities. Hearing loss and dental problems can accompany each of the syndromes.
The treatment approach is dependent on the associated anomalies. For example, patients with Apert, Crouzon and Pfeiffer syndromes are treated with similar procedures, such as midface surgery to correct the underdeveloped structures of the midface.
The treatment of syndromic craniosynostosis is dependent upon both functional and appearance-related needs, and should be addressed immediately after your child is born at a medical center where she will have access to pediatric specialists across the many clinical areas she may need.
At The Children’s Hospital of Philadelphia, coordinated care of patients with craniosynostosis related to syndromes is managed through the Craniofacial Program, working closely with the Center for Pediatric Airway Disorders to address breathing issues, as well as the Pediatric Feeding and Swallowing Center to manage feeding issues. Eye protection or balance issues, such as strabismus, are coordinated through the Division of Ophthalmology.
Because every patient with syndromic craniosynostosis has unique problems, the timing and course of surgical treatment is highly individualized. It is important to see a surgeon with expertise in pediatric plastic and reconstructive surgery who specializes in treating these rare conditions. Learn more about the current surgical treatment approach for children with craniosynostosis »
As your child grows, she should also have access to psychosocial support services to address any mental, social or psychological issues that accompany these conditions.
Watch this educational video to learn more about the treatment approaches available to children with different types of craniosynostosis.