ORPHA:2342
Haim-Munk syndrome
Also known as: Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome · Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Clinical definition (Orphanet)
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
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.
Is anyone studying this?
124
124 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=183) is 38.
124 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
62 in the last 10 years · high confidence · 60.4th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CTSC).
GenCC classification: Definitive.
Who's working on it?
570
Distinct author names in 124 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.
- 01Hart TC6 papers · 2010
Department of Oral Medicine/Pathology, University of Pittsburgh, School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA.
Papers in Europe PMC - 02BONDEBJERG Jon5 papers · 2008Papers in Europe PMC
- 03FUGLSANG Henrik5 papers · 2008Papers in Europe PMC
- 04Hart PS4 papers · 2000
University of Pittsburgh, Department of Human Genetics, Pittsburgh, PA 15261, USA. hart@cpc.pitt.edu
Papers in Europe PMC - 05Michalec MD4 papers · 2000Papers in Europe PMC
- 06Shapira L4 papers · 2026
Department of Periodontology, Hadassah Faculty of Dental Medicine, Hebrew University, Jerusalem, Israel.
Papers in Europe PMC - 07Zhang Y4 papers · 2000Papers in Europe PMC
- 08Bloch-Zupan A3 papers · 2019
1] Faculty of Dentistry, University of Strasbourg, Strasbourg, France [2] Reference Centre for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-Dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, France [3] Institute of Genetics and Molecular and Cellular Biology (IGBMC), Inserm U964, CNRS-UdS UMR7104, Illkirch, France.
Papers in Europe PMC - 09Firatli E3 papers · 2000Papers in Europe PMC
- 10Korkmaz B3 papers · 2023
INSERM U-618 Protéases et Vectorisation Pulmonaires, Université François Rabelais, Faculté de médecine, 10 Boulevard Tonnellé, Tours, France. brice.korkmaz@inserm.fr
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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 below but are not added to the query string.
"Haim-Munk syndrome" OR "Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" OR "Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" OR "Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome"
MeSH descriptor terms unioned into the query: Keratosis palmoplantaris with periodontopathia and onychogryposis
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Haim-Munk syndrome" OR "Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" OR "Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" OR "Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome" OR "Keratosis palmoplantaris with periodontopathia and onychogryposis" OR "CTSC"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537627 OMIM:245010 UMLS:C1855627
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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