Muenke syndrome
Findings
No curated finding names Muenke syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0011274), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
40 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.
- Hearing impairmentHPOHP:0000365
- 69 of 89 reported patients
- Coronal craniosynostosisHPOHP:0004440
- 33 of 49 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 63 of 95 reported patients
- Occasional (5% to 29% of cases)
- Midface retrusionHPOHP:0011800
- 53 of 83 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 34 of 55 reported patients
- BrachycephalyHPOHP:0000248
- 47 of 86 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 28
- PlagiocephalyHPOHP:0001357
- 16 of 86 reported patients
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- 5 of 81 reported patients
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- 11 of 83 reported patients
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 17 of 46 reported patients
- Frequent (30% to 79% of cases)
- Short footHPOHP:0001773
- Frequent (30% to 79% of cases)
- Short palmHPOHP:0004279
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.
- FGFR3HGNC:3690
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: Muenke syndrome
- Also called
- craniosynostosis - dysmorphism - brachydactylycraniosynostosis brachydactylycraniosynostosis with facial dysmorphism and brachydactyly syndromecraniosynostosis-dysmorphism-brachydactyly syndromeFGFR3-related craniosynostosisglass-chapman-hockley syndromeMNKES