trigonocephaly 1
MONDO:0008603Mondo
Findings
No curated finding names trigonocephaly 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008603), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- High, narrow palateHPOHP:0002705
- 1 of 1 reported patient
- HypotelorismHPOHP:0000601
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Metopic synostosisHPOHP:0011330
- 1 of 1 reported patient
- Short noseHPOHP:0003196
Where it sits
- A kind of
Other names
3 names
Resolves to: trigonocephaly 1
- Also called
- FGFR1 isolated trigonocephalyisolated trigonocephaly caused by mutation in FGFR1trigonocephaly type 1