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Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
Features include always present findings: Hypoplastic fifth toenail, Concave nail, and Agenesis of permanent teeth. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 3 | Ridged nail, Nail pits, Concave nail |
Arms and legs | 1 | Hypoplastic fifth toenail |
MSX1 encodes msh homeobox 1 (303 aa). Acts as a transcriptional repressor. Capable of transcription autoinactivation. Highest expression in Cervix Endocervix (129.5 TPM) and Cervix Ectocervix (81.9 TPM).
The MSX1 protein participates in Expression of MSX1 in the neural plate border, Expression of TFAP2A in the neural plate border, and Specification of the neural plate border pathways.
MSX1 is classified as a druggable target (Transcription Factor Complex category) with score 0.0.
Genetic testing for MSX1 is available. Testing is considered disputed for diagnosis.
Phenotype severity distribution: 3 always present features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for tooth and nail syndrome.
2 publications have been identified in PubMed for tooth and nail syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Majalkare S (2025). [PMID: 40555530](https://pubmed.ncbi.nlm.nih.gov/40555530/). *BMJ Case Rep*. [Case Report / Case Series]
Myo AC (2025). [PMID: 40693189](https://pubmed.ncbi.nlm.nih.gov/40693189/). *Front Dent Med*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center