Craniosynostosis is caused by the premature fusion of one or multiple cranial sutures, often leading to abnormal head shape and facial features. In some cases craniosynostosis can result in increased intracranial pressure causing visual impairment, eating difficulties, and neurodevelopmental disability.
Craniosynostosis can occur in an isolated setting (nonsyndromic) or as part of a genetic syndrome (e.g. Crouzon, Pfeiffer, Apert, Muenke, and Saethre-Chotzen syndromes). Approximately 85 % of all cases of craniosynostosis are nonsyndromic.
The prevalence of craniosynostosis is estimated to affect 1 in 2,000 to 2,500 live births worldwide.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Prenatal diagnosis for known familial mutation
3. Genetic counseling
Gault DT et al . Intracranial pressure and intracranial volume in children with craniosynostosis. Plast. Reconstr. Surg. 1992 Sep. 90 (3): 377–81.
Heuzé Y et al. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014 Sep 1;2(3):135-145.
Slater BJ et al. Cranial sutures: a brief review. 2008 April. Plast. Reconstr. Surg. 121 (4): 170e–8e.