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benign paroxysmal torticollis of infancy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

benign paroxysmal torticollis of infancy

MONDO:0019113

Overview

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.

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Torticollis; and common findings: Abnormal head movements, Irritability, Lack of interest or motivation (apathy), and Pallor and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Irritability, Lack of interest or motivation (apathy), Ataxia

Prognosis

Phenotype severity distribution: 1 very common feature, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for benign paroxysmal torticollis of infancy.

1 publication has been identified in PubMed for benign paroxysmal torticollis of infancy. Research spans Review / Meta-Analysis (100%).

Recent Publications

Tozzi E (2024). [PMID: 38929700](https://pubmed.ncbi.nlm.nih.gov/38929700/). *Life (Basel)*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:71518

GARD

Genetic and Rare Diseases Info Center

GARD:18913

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

benign paroxysmal torticollis of infancy

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Vestibular deficit and recovery in rare forms of benign paroxysmal positional vertigo with downbeat nystagmus.

benign paroxysmal torticollis of infancy

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Vestibular deficit and recovery in rare forms of benign paroxysmal positional vertigo with downbeat nystagmus.