ORPHA:423454
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Also known as: Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
46
43.8th percentile
Trials
0
Interventional, condition-specific
Researchers
337
Distinct authors in sample
Gene link
GRHL2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal syndrome characterized by short stature, nail 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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014460
- OMIM:616029
- UMLS:C4014987
Additional Mondo synonyms (2)
ectodermal dysplasia-short stature syndrome · short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GRHL2
- LiteraturePresent
46 matched papers (30 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (GRHL2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
46
46 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
46 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
30 in the last 10 years · high confidence · 43.8th percentile (publications denominator)
Phrase hits: 46 · MeSH hits: 0
Who's working on it?
337
Distinct author names in 46 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Ainsworth J2 papers · 2023
The MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK.
Papers in Europe PMC - 02Alabert C2 papers · 2023
Division of Molecular, Cell & Developmental Biology, School of Life Sciences, University of Dundee, Dundee, UK.
Papers in Europe PMC - 03Alvarez V2 papers · 2023
Division of Molecular, Cell & Developmental Biology, School of Life Sciences, University of Dundee, Dundee, UK.
Papers in Europe PMC - 04Darling TN2 papers · 2010Papers in Europe PMC
- 05Evrin C2 papers · 2023
The MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK.
Papers in Europe PMC - 06Fujisawa R2 papers · 2023
The MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK.
Papers in Europe PMC - 07Labib KP2 papers · 2023
The MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK.
Papers in Europe PMC - 08Li Y2 papers · 2022
Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, P.R. China.
Papers in Europe PMC - 09Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 10Liu Z2 papers · 2026
Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" OR "Ectodermal dysplasia-short stature syndrome" OR "Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" OR "Ectodermal dysplasia-short stature syndrome" OR "Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" OR "GRHL2" OR "focal palmoplantar keratoderma" OR "hereditary palmoplantar keratoderma"
Recall-expansion terms: GRHL2, focal palmoplantar keratoderma, hereditary palmoplantar keratoderma
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T15:51:35.849Z