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Craniofacial Conditions

What are the symptoms?

Craniosynostosis causes distortion of the shape of the skull owing both to failure of bone growth at the prematurely closed suture, and to compensatory overgrowth at the sutures that remain open. The different types of craniosynostosis are classified by which sutures have closed prematurely. Most common (forty-five per cent) is sagittal synostosis, which gives a long, narrow head; next most frequent is coronal synostosis (twenty per cent), which may affect one side (unilateral) or both sides (bilateral) and gives a broad, flat head that is asymmetric in unilateral cases; metopic synostosis (fifteen per cent) causes a triangular-shaped forehead. Lambdoid synostosis is rare. However, not all abnormalities of skull shape are caused by craniosynostosis; a consequence of the 'back to sleep' campaign to reduce the occurrence of cot death has been a marked increase in the frequency of babies who have flat backs to their heads due to sleeping on their backs. In the absence of craniosynostosis, this condition, termed 'deformational plagiocephaly' slowly improves with age and does not require surgery.

The remaining twenty per cent of craniosynostosis is more complex and either involves the fusion of multiple sutures (five per cent), and/or is combined with additional changes in the face, limbs or other parts of the body, indicating a 'syndrome' (fifteen per cent). Over one hundred craniosynostosis syndromes have been described, most of which are extremely rare; the most common syndromes are Crouzon, Pfeiffer, Apert, Muenke, Saethre-Chotzen and craniofrontonasal syndromes. In these complex cases, there may be additional problems with the vision, breathing, hearing, teeth, learning development, facial appearance and malformation of the limbs and other organs.

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Medical text written February 1994 by Dr W Reardon, Senior Registrar in Clinical Genetics, Institute of Child Health, London, UK. Last updated December 2006 by Professor A Wilkie, Nuffield Professor of Pathology, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK.

 

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