craniosynostosis 4
MONDO:0010929Mondo
Findings
No curated finding names craniosynostosis 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.
Definition from the Mondo Disease Ontology (MONDO:0010929), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- RetrognathiaHPOHP:0000278
- 2 of 2 reported patients
- Sagittal craniosynostosisHPOHP:0004442
- 7 of 8 reported patients
- Lambdoidal craniosynostosisHPOHP:0004443
- 5 of 8 reported patients
- HypertelorismHPOHP:0000316
- 16 of 28 reported patients
- Bicoronal synostosisHPOHP:0011318
- 1 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Depressed nasal bridgeHPO
Show the remaining 8
- MacrocephalyHPOHP:0000256
- 7 of 26 reported patients
- ProptosisHPOHP:0000520
- 7 of 28 reported patients
- Metopic synostosisHPOHP:0011330
- 2 of 10 reported patients
- Diminished ability to concentrateHPOHP:0031987
- 5 of 26 reported patients
- Malar flatteningHPOHP:0000272
- 5 of 28 reported patients
- Chiari type I malformationHPOHP:0007099
- 4 of 26 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ERFHGNC:3444
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2015
Where it sits
- A kind of
Other names
4 names
Resolves to: craniosynostosis 4
- Also called
- craniosynostosis caused by mutation in ERFcraniosynostosis type 4ERF craniosynostosisERF-related craniosynostosis