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ORPHA:1882

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

low confidenceDisorder

Also known as: ANOTHER syndrome · HEDH syndrome

Publications

682

Trials

0

Interventional, condition-specific

Researchers

1,243

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, ectodermal syndrome characterized by the association of hypohidrotic ectodermal (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.

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 (1)

another 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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    682 matched papers (346 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Sparse scalp hair; Short stature; Sparse eyebrow) 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 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0009150

  • Sparse scalp hair
  • Short stature
  • Sparse eyebrow
  • Lacrimation abnormality
  • Hypohidrosis

Showing 5 of 15 — 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?

682

682 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

682 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).

346 in the last 10 years · low confidence

Phrase hits: 682 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,243

Distinct author names in 200 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.

  1. 01
    Beales PL4 papers · 2023

    Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

    Papers in Europe PMC
  2. 02
    Schmidts M4 papers · 2023

    Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.

    Papers in Europe PMC
  3. 03
    Walczak-Sztulpa J4 papers · 2023

    Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

    Papers in Europe PMC
  4. 04
    Wawrocka A4 papers · 2023

    Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

    Papers in Europe PMC
  5. 05
    Antony D3 papers · 2023

    Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.

    Papers in Europe PMC
  6. 06
    Kumar S3 papers · 2023

    Department of Cardiology, Westmead Hospital, Sydney, New South Wales, Australia.

    Papers in Europe PMC
  7. 07
    Latos-Bielenska A3 papers · 2020

    Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

    Papers in Europe PMC
  8. 08
    Pazour GJ3 papers · 2023

    Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA USA.

    Papers in Europe PMC
  9. 09
    Wu K3 papers · 2023

    Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.

    Papers in Europe PMC
  10. 10
    Arts HH2 papers · 2020

    Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia 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.

"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" OR "ANOTHER syndrome" OR "HEDH syndrome"

Run this search on Europe PMC

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

"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" OR "ANOTHER syndrome" OR "HEDH syndrome"

Study-type breakdown: 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (682) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T18:23:07.241Z