Treacher-Collins syndrome
Findings
No curated finding names Treacher-Collins syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
Definition from the Mondo Disease Ontology (MONDO:0002457), read 2026-09-29. CC BY 4.0.
Features
69 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormality of bone mineral densityHPOHP:0004348
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Very frequent (80% to 99% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Open biteHPOHP:0010807
- Very frequent (80% to 99% of cases)
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
- Short faceHPOHP:0011219
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
Show the remaining 57
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Abnormality of the middle earHPOHP:0000370
- Frequent (30% to 79% of cases)
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
- Absent eyelashesHPOHP:0000561
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
Genes
4 genes
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 · ClinGen · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:20422HGNC:20422
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
- POLR1BHGNC:20454
- Supportive · Orphanet · Autosomal dominant · 2021
- POLR1CHGNC:20194
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Treacher-Collins syndrome
- Also called
- Franceschetti-Klein syndromemandibulofacial dysostosis without limb anomaliesTreacher Collins Syndrome