benign paroxysmal torticollis of infancy
Findings
No curated finding names benign paroxysmal torticollis of infancy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.
Definition from the Mondo Disease Ontology (MONDO:0019113), read 2026-09-29. CC BY 4.0.
Features
10 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.
- TorticollisHPOHP:0000473
- Very frequent (80% to 99% of cases)
- Abnormal head movementsHPOHP:0002457
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- DrowsinessHPOHP:0002329
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- MigraineHPOHP:0002076
- Frequent (30% to 79% of cases)
- PallorHPOHP:0000980
- Frequent (30% to 79% of cases)
- VertigoHPOHP:0002321
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
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.
- CACNA1AHGNC:1388
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of