Treacher Collins syndrome 3
Findings
No curated finding names Treacher Collins syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.
Definition from the Mondo Disease Ontology (MONDO:0009558), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 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
- 3 of 3 reported patients
- Hypoplasia of the zygomatic boneHPOHP:0010669
- 3 of 3 reported patients
- Malar flatteningHPOHP:0000272
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 3 reported patients
- MicrotiaHPOHP:0008551
- 3 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 3 reported patients
- Lower eyelid colobomaHPOHP:0000652
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.
- POLR1CHGNC:20194
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2016
- Moderate · ClinGen · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: Treacher Collins syndrome 3
- Also called
- POLR1C Treacher-Collins syndromeTreacher Collins syndrome type 3Treacher-Collins syndrome caused by mutation in POLR1C