nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Findings
No curated finding names nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Definition from the Mondo Disease Ontology (MONDO:0014460), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 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.
- Delayed eruption of teethHPOHP:0000684
- 6 of 6 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 6 of 6 reported patients
- Epidermal acanthosisHPOHP:0025092
- 3 of 3 reported patients
- HypodontiaHPOHP:0000668
- 6 of 6 reported patients
- Nail dystrophyHPOHP:0008404
- 6 of 6 reported patients
- Palmoplantar keratodermaHPOHP:0000982
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.
- GRHL2HGNC:2799
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
- Also called
- ectodermal dysplasia-short stature syndromeshort stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome