ORPHA:293958
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Also known as: HPPD · Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
Publications
194
63th percentile
Trials
0
Interventional, condition-specific
Researchers
846
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.
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:0013614
- OMIM:614187
- UMLS:C4751125
Additional Mondo synonyms (1)
hypertelorism-preauricular sinus-punctual pits-hearing loss 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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
194 matched papers (145 in last 10 years) Source
- Phenotype characterisedPresent
5 HPO annotations (e.g. Hearing impairment; Shawl scrotum; Hypertelorism) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
5
Associated phenotypes · MONDO:0013614
- Hearing impairment
- Shawl scrotum
- Hypertelorism
- Nasolacrimal duct obstruction
- Preauricular pit
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?
194
194 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=3967) is 59.
194 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).
145 in the last 10 years · medium confidence · 63th percentile (publications denominator)
Phrase hits: 194 · MeSH hits: 0
Who's working on it?
846
Distinct author names in 194 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.
- 01Lerner AG9 papers · 2018
Lev Hasharon Mental Health Medical Center, Pardessya 42100, Israel. alerner@lev-hasharon.co.il.
Papers in Europe PMC - 02Lev-Ran S6 papers · 2017
Lev Hasharon Mental Health Medical Center, Pardessya, Israel.
Papers in Europe PMC - 03Kettner H5 papers · 2025
Centre for Psychedelic Research, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom.
Papers in Europe PMC - 04Blom JD4 papers · 2024
Outpatient Clinic for Uncommon Psychiatric Syndromes, Parnassia Psychiatric Institute, The Hague, Netherlands.
Papers in Europe PMC - 05Carhart-Harris R4 papers · 2026
Centre for Psychedelic Research, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK.
Papers in Europe PMC - 06Corkery JM4 papers · 2023
Psychopharmacology, Drug Misuse and Novel Psychoactive Substances Research Unit, School of Life and Medical Sciences, University of Hertfordshire, Hatfield, United Kingdom.
Papers in Europe PMC - 07Fraser CL4 papers · 2024
Faculty of Health and Medicine, Save Sight Institute, The University of Sydney, 8 Macquarie Street, Sydney, NSW, 2000, Australia. Clare.fraser@sydney.edu.au.
Papers in Europe PMC - 08G Lerner A4 papers · 2015
Lev Hasharon Mental Health Medical Center, Pardessya, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Papers in Europe PMC - 09Goodman C4 papers · 2017
Lev Hasharon Mental Health Medical Center, Pardessya, Israel.
Papers in Europe PMC - 10Majić T4 papers · 2026
Department of Psychiatry and Psychotherapy, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Berlin, Germany.
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.
medium 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome — check Associations / patient organisations on that page.
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.
"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome" OR "Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome" OR "Hypertelorism-preauricular sinus-punctual pits-hearing loss 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
Synonyms dropped by stoplist: HPPD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:25:23.609Z