Craniosynostosis

Overview

Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a disorder present at birth in which one or more of the fibrous joints between the bones of your baby's skull (cranial sutures) close prematurely (fuse), before your baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance.

Usually, during infancy the sutures remain flexible, allowing a baby's skull to expand as the brain grows. In the front of the skull, the sutures meet in the large soft spot (fontanel) on top of the head. The anterior fontanel is the soft spot felt just behind a baby's forehead. The next largest fontanel is at the back (posterior). Each side of the skull has a tiny fontanel.

Types of Craniosynostosis

1. Nonsyndromic Craniosynostosis:
   • Combination of environmental and genetic factors.
   • No associated genetic syndromes.
2. Syndromic Craniosynostosis:
   • Linked to specific genetic syndromes affecting skull development:
     • Apert syndrome
     • Pfeiffer syndrome
     • Crouzon syndrome
     • Carpenter syndrome
     • Saethre-Chotzen syndrome.

Causes of Craniosynostosis

• The exact cause remains unknown in most cases.
• Nonsyndromic: Environmental and genetic factors.
• Syndromic: Genetic syndromes affecting skull development.

Risk Factors of Craniosynostosis

• Environmental Factors:
  • Maternal smoking during pregnancy.
  • Certain medications.
• Genetic Factors:
  • Family history of craniosynostosis.

Symptoms of Craniosynostosis

Preventions of Craniosynostosis

Unfortunately, there are no known preventive measures for craniosynostosis.

Diagnosis of Craniosynostosis

1. Physical Examination:
   • Palpating suture ridges and checking for facial deformities.
   • Measuring head circumference.
2. Fundoscopy:
   • Assessing eye health due to potential vision problems.
3. CT Scan:
   • Reveals fused sutures.
4. Genetic Testing:
   • Identifies associated genetic syndromes (FGFR and TWIST genes).

Treatment for Craniosynostosis

• Mild Craniosynostosis (Positional Plagiocephaly):
  • May not require surgery; helmet therapy can reshape the head.
• Other Cases:
  • Surgery (Endoscopic or Open) to reshape affected areas.
• Therapy:
  • Helmet therapy post-endoscopic surgery.

When to seek medical attention ?

If you notice any symptoms or suspect craniosynostosis, consult a healthcare provider promptly.