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Syndromic Craniosynostosis

In babies, sutures or seams in the skull usually remain open to allow proper brain development. When these sutures close prematurely, the condition is known as craniosynostosis, which causes the head to take on an abnormal shape.  

In some infants, the cause of craniosynostosis is not fully known. In others, genetic disorders like Pfeiffer syndrome contribute to symptoms. When the condition is linked to a genetic disorder it’s called syndromic craniosynostosis.  

Symptoms and Types of Craniosynostosis 

The type of craniosynostosis depends on which sutures in the skull are affected. Types of the disorder include: 

  • Scaphocephaly – With this form, a baby’s head can develop into a long, narrow shape.   
  • Metopic – Metopic craniosynostosis causes a triangular head shape in infants.  
  • Lambdoid – This type of craniosynostosis causes flattening to one side of the head, as well as issues with the positioning of the ear on the affected side.  
  • Coronal – Coronal craniosynostosis causes flatness on one side of the head, while the other side may bulge outward. It can also affect the appearance of the eye and nose on the flat side.  

With syndromic craniosynostosis, it’s possible for multiple sutures to experience issues. This can lead to a combination of the above symptoms.  

Possible Complications 

Without proper treatment, a child with craniosynostosis can experience the following complications: 

  • Permanent disfigurement of the head 
  • Cognitive issues 
  • Vision problems 
  • Headaches 
  • Delayed development 
  • Seizures 

Prompt treatment is crucial to prevent worsening effects. Additionally, infants with a syndromic form of craniosynostosis will require treatment of the underlying condition.  

Treatment 

When the effects of craniosynostosis are mild, doctors can provide a special helmet. This helmet allows the head to develop into the proper shape as the brain grows.  

With more severe forms of the disorder, surgery is typically required. If a baby is six months or younger, treatment usually involves endoscopic surgery. This minimally invasive procedure entails removing the prematurely fused suture, which allows the brain to grow without impediment. Endoscopic surgery also involves the use of helmet therapy once the procedure is complete.  

For babies who are six months or older, open surgery is recommended. With these procedures, surgeons actually reform the skull into the proper shape.  

 
 
 

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