" /> Craniosynostosis 2 - CISMeF





Preferred Label : Craniosynostosis 2;

Symbol : CRS2;

CISMeF acronym : CRS2; CSB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CSB; Craniosynostosis, boston-type;

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 (Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the msh homeobox 2 gene (MSX2, 123101.0001);

Prefixed ID : #604757;

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03/05/2025


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