ORPHA:1388
Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
Also known as: Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
228
69.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,174
Distinct authors in sample
Gene link
TGDS
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.
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:0014507
- MeSH:C535347
- OMIM:302380
- OMIM:616145
- UMLS:C1844887
Additional Mondo synonyms (8)
Catel Manzke Syndrome · Catel-Manzke syndrome · Palatodigital syndrome, Catel-Manzke type · Pierre Robin sequence-hyperphalangy-clinodactyly syndrome · Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome · hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · index finger anomaly-Pierre Robin syndrome · micrognathia digital 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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TGDS
- LiteraturePresent
228 matched papers (117 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (TGDS).
GenCC classification: Definitive.
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?
228
228 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=5449) is 41.
228 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).
117 in the last 10 years · medium confidence · 69.1th percentile (publications denominator)
Phrase hits: 228 · MeSH hits: 0
Who's working on it?
1,174
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.
- 01Cormier-Daire V7 papers · 2025
Université de Paris, INSERM UMR 1163, Institut Imagine, Paris, France.
Papers in Europe PMC - 02Ehmke N6 papers · 2025
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.
Papers in Europe PMC - 03Mundlos S6 papers · 2025
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 04Kornak U5 papers · 2025
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.
Papers in Europe PMC - 05Fischer-Zirnsak B4 papers · 2025
Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 13353, Germany.
Papers in Europe PMC - 06Al Kaissi A3 papers · 2013
First Medical Department, Hanusch Hospital, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, Vienna, Austria. ali.alkaissi@osteologie.at
Papers in Europe PMC - 07Campeau PM3 papers · 2026
Department of Pediatrics, CHU Sainte-Justine Research Center, 3175 Chemin de la Côte-Sainte-Catherine, and Université de Montréal, 2900 Edouard Montpetit Boulevard, Montreal, QC, Canada, H3T1C5.
Papers in Europe PMC - 08Ferreira CR3 papers · 2023
Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 09Grill F3 papers · 2013Papers in Europe PMC
- 10Huber C3 papers · 2020
Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France.
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 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.
medium 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.
See who's working on it — 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 on the overview but are not added to the query string.
"Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome" OR "Pierre-Robin sequence-Manzke dysostosis-clinodactyly of index finger syndrome" OR "Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome" OR "Pierre-Robin sequence-hyperphalangy and clinodactyly of index finger syndrome" OR "Catel Manzke Syndrome" OR "Catel-Manzke syndrome" OR "Palatodigital syndrome, Catel-Manzke type" OR "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" OR "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" OR "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" OR "hyperphalangy-clinodactyly of the index finger with Pierre Robin syndrome" OR "index finger anomaly-Pierre Robin syndrome" OR "micrognathia digital syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome" OR "Pierre-Robin sequence-Manzke dysostosis-clinodactyly of index finger syndrome" OR "Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome" OR "Pierre-Robin sequence-hyperphalangy and clinodactyly of index finger syndrome" OR "Catel Manzke Syndrome" OR "Catel-Manzke syndrome" OR "Palatodigital syndrome, Catel-Manzke type" OR "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" OR "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" OR "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" OR "hyperphalangy-clinodactyly of the index finger with Pierre Robin syndrome" OR "index finger anomaly-Pierre Robin syndrome" OR "micrognathia digital syndrome" OR "TGDS"
Recall-expansion terms: TGDS
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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
- Publication count (228) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T17:13:08.739Z