tooth and nail syndrome
MONDO:0008582Mondo
Findings
No curated finding names tooth and nail syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0008582), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
21 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
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Concave nailHPOHP:0001598
- 9 of 9 reported patients
- Hypoplastic fifth toenailHPOHP:0011937
- 9 of 9 reported patients
- Abnormal dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Hypoplastic toenailsHPOHP:0001800
- Very frequent (80% to 99% of cases)
- Ridged fingernailHPOHP:0008402
- Very frequent (80% to 99% of cases)
- Thin toenailHPOHP:0012746
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases)
- Fine hairHPOHP:0002213
- 0 of 9 reported patients
- Frequent (30% to 79% of cases)
- Polycystic ovariesHPOHP:0000147
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.
- MSX1HGNC:7391
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
7 names
Resolves to: tooth and nail syndrome
- Also called
- HNDhypodontia and nail dysplasiahypodontia with nail dysplasiahypodontia-nail dysgenesis syndromehypodontia-nail dysplasiahypoplastic enamel-onycholysis-hypohidrosis syndromeWitkop syndrome