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pili torti - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pili torti

MONDO:0009870

Also known as:pili torti (disease)twisted haircoarse, dry, lusterless hair which breaks off easily

Overview

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.

GeneticsAutosomal recessive, Sporadic (not inherited), Autosomal dominant

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: Pili torti and Abnormality of hair texture; and common findings: Brittle hair, Abnormality of the dentition, Abnormal eyebrow morphology, and Abnormal dental enamel morphology and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Alopecia, Abnormal nail morphology

Diagnosis

Biomarker and diagnostic research for pili torti has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 6 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 pili torti.

11 publications have been identified in PubMed for pili torti. Research spans Case Report / Case Series (64%), Other (9%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Patient case studies	7	64%
Other research

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:261900

Orphanet

European rare disease database

Orphanet:2889

GARD

Genetic and Rare Diseases Info Center

GARD:4361

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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pili torti

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

pili torti

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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