Crouzon syndrome
MONDO:0007405Mondo
Findings
No curated finding names Crouzon syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0007405), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
38 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.
- Conductive hearing impairmentHPOHP:0000405
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- 8 of 8 reported patients
- Occasional (5% to 29% of cases)
- Coronal craniosynostosisHPOHP:0004440
- 8 of 8 reported patients
- Deviated nasal septumHPOHP:0004411
- 8 of 8 reported patients
- HypertelorismHPOHP:0000316
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- 7 of 8 reported patients
- High palateHPOHP:0000218
- 7 of 8 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
Show the remaining 26
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- Multiple suture craniosynostosisHPOHP:0011324
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Chiari malformationHPOHP:0002308
- Frequent (30% to 79% of cases)
- ConjunctivitisHPOHP:0000509
- Frequent (30% to 79% of cases)
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.
- FGFR2HGNC:3689
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: Crouzon syndrome
- Also called
- craniofacial dysostosisCrouzon craniofacial dysostosis