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);