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ORPHA:978

ADULT syndrome

low confidenceDisorder

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

Publications

8,925,917

Trials

2

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

TP63

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — TP63

  2. LiteraturePresent

    8,925,917 matched papers (3,295,152 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Prominent nasal bridge; Wide nasal bridge; Nasolacrimal duct obstruction) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

56

Associated phenotypes · MONDO:0007072

  • Prominent nasal bridge
  • Wide nasal bridge
  • Nasolacrimal duct obstruction
  • Split foot
  • Sparse scalp hair

Showing 5 of 56 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,925,917

8,925,917 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,925,917 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,295,152 in the last 10 years · low confidence

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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (40)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for ADULT syndrome — check Associations / patient organisations on that page.

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") OR ("TP63" OR "TP63 syndrome" OR "TP63-related" OR "ADULT" OR "ADULT-related")

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"

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: ok — strategies attempted: phrase; 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
  • Publication count (8925917) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

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