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ORPHA:3387

Isolated anterior cervical hypertrichosis

high confidenceDisorder

Also known as: Hairy throat syndrome · Tsukahara-Kajii syndrome

Publications

5

12.1th percentile

Trials

0

Interventional, condition-specific

Researchers

14

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.

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)

hairy throat 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5 matched papers (2 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 trialPartial

    None under the specific name; 10 for broader category hypertrichosis

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)

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?

5

5 papers have ever been indexed 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.

5 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).

2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

14

Distinct author names in 5 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
    Alahwal H1 paper · 2026

    Department of Dermatology, King Abdullah Medical Complex, Prince Nayef Street, Northern Abhor, Jeddah, 23816, Saudi Arabia, 966 504499894.

    Papers in Europe PMC
  2. 02
    Antaya RJ1 paper · 2010
    Papers in Europe PMC
  3. 03
    Blasco-Morente G1 paper · 2017

    Unidad de Gestión Clínica de Dermatología Médico Quirúrgica y Venereología, Complejo Hospitalario Universitario de Granada, Granada, España.

    Papers in Europe PMC
  4. 04
    Cabanillas M1 paper · 2009
    Papers in Europe PMC
  5. 05
    Cacharrón JM1 paper · 2009
    Papers in Europe PMC
  6. 06
    de las Heras C1 paper · 2009
    Papers in Europe PMC
  7. 07
    Henrique M1 paper · 2016

    Department of Dermatology, Centro Hospitalar Leiria, Leiria, Portugal.

    Papers in Europe PMC
  8. 08
    Kieselova K1 paper · 2016

    Department of Dermatology, Centro Hospitalar Leiria, Leiria, Portugal.

    Papers in Europe PMC
  9. 09
    Monteagudo B1 paper · 2009

    Servicio de Dermatología, Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, A Coruña, España. benims@hotmail.com

    Papers in Europe PMC
  10. 10
    Reddy S 4th1 paper · 2010

    Yale University School of Medicine, New Haven, Connecticut 06510, USA.

    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). 10 trials are registered for hypertrichosis, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

10 interventional trials matched hypertrichosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hypertrichosis

10

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

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.

"Isolated anterior cervical hypertrichosis" OR "Hairy throat syndrome" OR "Tsukahara-Kajii syndrome"

Run this search on Europe PMC

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

"Isolated anterior cervical hypertrichosis" OR "Hairy throat syndrome" OR "Tsukahara-Kajii syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hypertrichosis"

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

Ingested 2026-07-26T23:04:36.678Z