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inherited torticollis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited torticollis

MONDO:0008583

Also known as:congenital torticollisfibromatosis colliinherited torticollis (disease)

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Overview

A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.

GeneticsAutosomal dominant

Clinical Trials4 registered · 1 recruiting

Clinical Presentation

Features include: Torticollis and Facial asymmetry.

Organ System	Phenotype Count	Example Features
Head and neck	1	Facial asymmetry

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Diagnosis

Biomarker and diagnostic research for inherited torticollis has been reported in the published literature.

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.

4 clinical trials registered, 1 recruiting. Interventions under study include other interventions, medical devices, and procedural interventions. Pipeline includes 4 NA. Research is primarily sponsored by academic and government institutions.

40 publications have been identified in PubMed for inherited torticollis. Research spans Case Report / Case Series (28%), Review / Meta-Analysis (25%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Patient case studies	11

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:189600

GARD

Genetic and Rare Diseases Info Center

GARD:4908

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→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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inherited torticollis

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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