Description : Premature fusion of the various sutures in the human neurocranium (skull vault and
base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal
head shape and increased intracranial pressure, which may result in neurologic symptoms,
developmental delay, and hearing or vision problems. Approximately 80% of cases are
classified as nonsyndromic craniosynostosis and present as isolated suture fusion
with no other associated anomalies. Sagittal suture fusion is the most common form
of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary
by Yagnik et al., 2012). For a discussion of genetic heterogeneity of craniosynostosis,
see CRS1 (123100).;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the homolog of the mouse aristaless-like 4
gene (ALX4, 605420.0009);
Genes related to phenotype