Treacher Collins syndrome 4
MONDO:0030067Mondo
Findings
No curated finding names Treacher Collins syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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.
- Downslanted palpebral fissuresHPOHP:0000494
- 6 of 6 reported patients
- Malar flatteningHPOHP:0000272
- 6 of 6 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 5 of 6 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 5 of 6 reported patients
- MicrognathiaHPOHP:0000347
- 5 of 6 reported patients
- Cleft palateHPOHP:0000175
- 3 of 6 reported patients
- Lower eyelid colobomaHPOHP:0000652
- 3 of 6 reported patients
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- 3 of 6 reported patients · Neonatal onset
- Choanal stenosisHPOHP:0000452
- 2 of 6 reported patients
- Facial asymmetryHPOHP:0000324
- 2 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 6 reported patients
- Preauricular hair displacementHPOHP:0009554
- 1 of 6 reported patients
Show the remaining 1
- Intellectual disabilityHPOHP:0001249
- 0 of 6 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.
- POLR1BHGNC:20454
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: Treacher Collins syndrome 4
- Also called
- TCS4Treacher-Collins syndrome 4