" /> Craniosynostosis 1 - CISMeF





Preferred Label : Craniosynostosis 1;

Symbol : CRS1;

CISMeF acronym : CRS; CRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CRANIOSTENOSIS; CRS;

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). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. - Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; 604757) is caused by mutation in the MSX2 gene (123101) on chromosome 5q. Craniosynostosis-3 (615314) is caused by mutation in the TCF12 gene (600480) on chromosome 15q21. Craniosynostosis-4 (600775) is caused by mutation in the ERF gene (611888) on chromosome 19q13.;

Inheritance : Autosomal dominant;

Prefixed ID : #123100;

Détails


Vous pouvez consulter :


Nous contacter.
27/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.