Singleton-Merten syndrome 1
Findings
No curated finding names Singleton-Merten syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024535), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Broad foreheadHPOHP:0000337
- 7 of 7 reported patients
- PtosisHPOHP:0000508
- 7 of 7 reported patients
- Smooth philtrumHPOHP:0000319
- 7 of 7 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 7 of 7 reported patients
- OsteopeniaHPOHP:0000938
- 10 of 11 reported patients
- Short dental rootHPOHP:0006336
- 10 of 11 reported patients
- Thickened calvariaHPOHP:0002684
Show the remaining 1
- ScoliosisHPOHP:0002650
- 3 of 11 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.
- IFIH1HGNC:18873
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · G2P · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: Singleton-Merten syndrome 1
- Also called
- IFIH1 singleton-Merten dysplasiasingleton-Merten dysplasia caused by mutation in IFIH1