Treacher Collins syndrome 1
Findings
No curated finding names Treacher Collins syndrome 1 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 TCOF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007944), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
19 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.
- Abnormal pinna morphologyHPOHP:0000377
- 4 of 4 reported patients
- Absent eyelashesHPOHP:0000561
- 3 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 74 of 74 reported patients
- Lower eyelid colobomaHPOHP:0000652
- 4 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 62 of 71 reported patients · Congenital onset
- 2 of 3 reported patients
- 1 of 1 reported patient
- Malar flatteningHPOHP:0000272
- 74 of 75 reported patients
Show the remaining 7
- Coronal craniosynostosisHPOHP:0004440
- 1 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 4 reported patients
- Lambdoidal craniosynostosisHPOHP:0004443
- 1 of 4 reported patients
- Squamosal suture synostosisHPOHP:6000612
- 1 of 4 reported patients
- Choanal atresiaHPOHP:0000453
- 9 of 60 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 53 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.
- TCOF1HGNC:11654
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Treacher Collins syndrome 1
- Also called
- TCOF1 Treacher-Collins syndromeTreacher Collins syndrome type 1Treacher-Collins syndrome 1Treacher-Collins syndrome caused by mutation in TCOF1