X-linked calvarial hyperostosis

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X-linked calvarial hyperostosis

A rare genetic primary bone dysplasia with increased bone density disorder characterized by benign isolated calvarial thickening presenting with prominent frontoparietal bones a high forehead with ridging of the metopic and sagittal sutures lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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X-linked calvarial hyperostosis?

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