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Craniosynostosis 2

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Description

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

59

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Genes

External Links

  • OMIM

    604757

  • Orphanet

    1541

  • HPO
  • Medgen

    C1858160

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