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trichothiodystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichothiodystrophy

MONDO:0018053

Also known as:trichothiodystrophy syndrome

Find Clinical TrialsTrials

Overview

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).

Clinical Trials1 registered · 1 recruiting

Patient Orgs1 organizations · The Cockayne Syndrome Foundation Inc.

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 sometimes findings: Decreased total neutrophil count, Low red blood cell count (anemia), Gait ataxia, and Intention tremor and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Gait ataxia, Intention tremor, Enlarged brain ventricles (ventriculomegaly)

Diagnosis

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

Prognosis

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

42 publications have been identified in PubMed for trichothiodystrophy. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (33%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Laboratory research	17	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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The Cockayne Syndrome Foundation Inc.

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:33364

GARD

Genetic and Rare Diseases Info Center

GARD:12109

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with The Cockayne Syndrome Foundation Inc. and other patient organizations for support?

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trichothiodystrophy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

trichothiodystrophy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications