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ORPHA:978

ADULT syndrome

medium confidenceDisorder

Also known as: Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

227

66th percentile

Trials

2

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

TP63

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare ectodermal syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

acro-dermato-ungual-lacrimal-tooth syndrome · acrodermatounguallacrimaltooth syndrome · pigment anomaly-ectrodactyly-hypodontia 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TP63

  2. LiteraturePresent

    227 matched papers (98 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

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 (TP63).

GenCC classification: Definitive.

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?

227

227 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.

227 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).

98 in the last 10 years · medium confidence · 66th percentile (publications denominator)

Phrase hits: 227 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,083

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    van Bokhoven H11 papers · 2019

    Department of Human Genetics 417, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Brunner HG7 papers · 2006

    University Medical Centre, Department of Human Genetics 417, Geert Grooteplein 16, 6525 GA Nijmegen, The Netherlands. H.Brunner@ANTRG.AZN.NL

    Papers in Europe PMC
  3. 03
    Koster MI7 papers · 2022

    Department of Dermatology and Charles C. Gates Regenerative Medicine and Stem Cell Biology Program, University of Colorado-Denver, Aurora, CO 80045, USA. Maranke.Koster@ucdenver.edu

    Papers in Europe PMC
  4. 04
    Dötsch V6 papers · 2023

    Institute of Biophysical Chemistry, Goethe University, Frankfurt am Main, Germany.

    Papers in Europe PMC
  5. 05
    Zhou H5 papers · 2023

    Departments of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

    Papers in Europe PMC
  6. 06
    Fete M4 papers · 2022

    The National Foundation for Ectodermal Dysplasias, Mascoutah, Illinosis.

    Papers in Europe PMC
  7. 07
    Hamel BC4 papers · 2002
    Papers in Europe PMC
  8. 08
    McKeon F4 papers · 2009
    Papers in Europe PMC
  9. 09
    Propping P4 papers · 2006

    Institut für Humangenetik, Universität Bonn, Germany.

    Papers in Europe PMC
  10. 10
    Xiao ZX4 papers · 2018

    Center of Growth, Metabolism and Aging, Key Laboratory of Bio-Resource and Eco-Environment of Ministry of Education, College of Life Sciences and State Key Laboratory of Biotherapy, Sichuan University, Chengdu 610014, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

This 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.

"ADULT syndrome" OR "Acro-dermato-ungual-lacrimal-tooth syndrome" OR "Pigment anomaly-ectrodactyly-hypodontia syndrome" OR "acrodermatounguallacrimaltooth syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"ADULT syndrome" OR "Acro-dermato-ungual-lacrimal-tooth syndrome" OR "Pigment anomaly-ectrodactyly-hypodontia syndrome" OR "acrodermatounguallacrimaltooth syndrome" OR "TP63"

Recall-expansion terms: TP63

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T16:05:22.275Z