Craniofacial congenital syndromes

Inheritance is autosomal dominant. The cause of inheritance is due to the multiple mutations in the fibroblast growth factor receptor 2 gene, FGFR2. The anterior positioning of the greater wing of the sphenoid is due to exorbitism. The shortening of the orbit is due the middle cranial fossa which is displaced anteriorly. Foreshortened of maxilla causes reduction of the orbit. Thus these changes result in the reduction of orbital volume and results in exorbitism. Completion of lid does not occur in severe cases. Thus  the final step of the congenital syndrome will be the rehabilitation of patients with the repair of congenital, acquired, accidental, and neoplastic defects.



  • Track 1-1 Facial palsy
  • Track 2-2 ACPS disorders
  • Track 3-3 Congential ear malformations
  • Track 4-4 Eye anomalies
  • Track 5-5 Pierre robin sequence
  • Track 6-6 Kaufman oculocerebrofacial syndrome
  • Track 7-7 Burn-McKeown syndrome
  • Track 8-8 Chromatin remodelling

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