tricho-dento-osseous syndrome
Findings
No curated finding names tricho-dento-osseous syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008592), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hair quantityHPOHP:0011362
- Frequent (30% to 79% of cases)
- Abnormal mastoid morphologyHPOHP:0000264
- Frequent (30% to 79% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- Dental enamel pitsHPOHP:0009722
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- Enamel hypomineralizationHPOHP:0006285
- Frequent (30% to 79% of cases)
- Fragile nailsHPOHP:0001808
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Increased bone mineral densityHPO · MondoHP:0011001
- Frequent (30% to 79% of cases)
- MicrodontiaHPOHP:0000691
- Frequent (30% to 79% of cases)
- Obliteration of the calvarial diploeHPOHP:0030312
- Frequent (30% to 79% of cases)
- Periapical tooth abscessHPOHP:0030758
- Frequent (30% to 79% of cases)
Show the remaining 4
- TaurodontiaHPOHP:0000679
- Frequent (30% to 79% of cases)
- Widely spaced teethHPOHP:0000687
- Frequent (30% to 79% of cases)
- Agenesis of incisorHPOHP:0006485
- Occasional (5% to 29% of cases)
- Finger clinodactylyHPOHP:0040019
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DLX3HGNC:2916
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: tricho-dento-osseous syndrome
- Also called
- TDOTDO syndromeTricho Dento Osseous SyndromeTRICHODENTOOSSEOUS syndrome