MedGen

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). [from OMIM]

Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014). [from OMIM]

Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex. [from GeneReviews]