Conditions / Genetic
craniosynostosis 4
info · Genetic
A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13.
Signs and symptoms
- Retrognathia
- Sagittal craniosynostosis
- Lambdoidal craniosynostosis
- Hypertelorism
- Delayed speech and language development
- Ectopic posterior pituitary
- Pansynostosis
- Bicoronal synostosis
- Depressed nasal bridge
- Optic nerve hypoplasia
Also known as: CRS4