Some mutations in ERF are associated with craniosynostosis.
Chromosome: 19q13.2
Gene: ERF (ETS2 repressor factor)
Craniosynostosis may involve:
(1) sagittal suture
(2) multiple sutures (very rarely pansynostosis)
Other findings may include:
(1) Chiari malformation
(2) language delay
(3) facial anomalies (hypertelorism, proptosis, depressed nasal bridge, retrognathia)
The diagnosis requires:
(1) demonstration of a mutation in ERF
(2) exclusion of other hereditary causes of craniosynostosis
