odonto-onycho-dermal dysplasia
Findings
No curated finding names odonto-onycho-dermal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.
Definition from the Mondo Disease Ontology (MONDO:0009773), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- Agenesis of permanent teethHPOHP:0006349
- 10 of 10 reported patients
- Short nailHPOHP:0001799
- 3 of 3 reported patients
- Widely spaced primary teethHPOHP:0006313
- 3 of 3 reported patients
- Sparse eyebrowHPOHP:0045075
- 7 of 10 reported patients
- Sparse scalp hairHPOHP:0002209
- 9 of 13 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 2 of 3 reported patients
- Smooth tongueHPOHP:0010298
Show the remaining 10
- Follicular hyperkeratosisHPOHP:0007502
- 1 of 3 reported patients
- Palmoplantar erythemaHPOHP:0025493
- 1 of 3 reported patients
- Palmoplantar hyperhidrosisHPOHP:0007410
- 1 of 3 reported patients
- Ridged nailHPOHP:0001807
- 1 of 3 reported patients
- Thin nailHPOHP:0001816
- 1 of 3 reported patients
- HypohidrosisHPOHP:0000966
- 3 of 10 reported patients
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.
- WNT10AHGNC:13829
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: odonto-onycho-dermal dysplasia
- Also called
- OODD