Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

tricho-dento-osseous syndrome (TDO) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tricho-dento-osseous syndrome

MONDO:0008592

Also known as:TDOTDO syndromeTRICHODENTOOSSEOUS syndrome

Overview

Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.

GeneticsAutosomal dominant · DLX3 (chr 17)

ResearchLimited published research (5 articles)

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 common findings: Abnormal mastoid morphology, Fragile nails, Increased bone density (increased bone mineral density), and Microdontia and others; and sometimes findings: Agenesis of incisor and Finger clinodactyly. 17 total HPO annotations.

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

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DLX3 encodes distal-less homeobox 3 (287 aa). Transcriptional activator. Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter Highest expression in Skin Sun Exposed Lower leg (85.8 TPM) and Skin Not Sun Exposed Suprapubic (65.4 TPM).

Tricho-dento-osseous syndrome is associated with mutations in the DLX3 gene on chromosome 17.

DLX3 is classified as a druggable target with score 4.4.

Diagnosis

Genetic testing for DLX3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 14 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 tricho-dento-osseous syndrome.

6 publications have been identified in PubMed for tricho-dento-osseous syndrome. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (20%).

Recent Publications

Diao C (2026). [PMID: 41585139](https://pubmed.ncbi.nlm.nih.gov/41585139/). *J Dent Sci*. [Basic Science / Preclinical]
Wang YL (2026). [PMID: 41774401](https://pubmed.ncbi.nlm.nih.gov/41774401/). *Ann N Y Acad Sci*. [Basic Science / Preclinical]
Chernyak M (2025). [PMID: 41143233](https://pubmed.ncbi.nlm.nih.gov/41143233/). *JAAD Case Rep*. [Case Report / Case Series]
Sinada N (2025). [PMID: 39237422](https://pubmed.ncbi.nlm.nih.gov/39237422/). *J Prosthet Dent*. [Case Report / Case Series]
Drumond VZ (2025). [PMID: 40402097](https://pubmed.ncbi.nlm.nih.gov/40402097/). *Spec Care Dentist*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:190320

Orphanet

European rare disease database

Orphanet:3352

GARD

Genetic and Rare Diseases Info Center

GARD:7799

Questions for Your Care Team

→Should I pursue genetic testing for DLX3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

tricho-dento-osseous syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features