ORPHA:79347
Chondrodysplasia punctata, Toriello type
Also known as: Toriello-Higgins-Miller syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
11
26.3th percentile
Trials
0
Interventional, condition-specific
Researchers
30
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, , brachytelephalangy and deep palmar creases. Complex cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have 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:0008973
- MeSH:C565853
- OMIM:215105
- UMLS:C1859132
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
11 matched papers (9 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 trialPartial
None under the specific name; 1 for broader category chondrodysplasia punctata
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?
11
11 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.
11 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).
9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
30
Distinct author names in 11 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.
- 01Tuuminen T4 papers · 2022
Kruunuhaka Medical Center, Kaisaniemenkatu 1Ba, 00 180 Helsinki, Finland.
Papers in Europe PMC - 02Heinonen T2 papers · 2023
Faculty of Medicine and Health Technology, Tampere University, Arvo Ylpön Katu 34, 33014 Tampere, Finland.
Papers in Europe PMC - 03Li X2 papers · 2012Papers in Europe PMC
- 04Mannerström M2 papers · 2023
Faculty of Medicine and Health Technology, Tampere University, Arvo Ylpön Katu 34, 33014 Tampere, Finland.
Papers in Europe PMC - 05Vaali K2 papers · 2023
Department of Pathology, Medicum, University of Helsinki, 00290 Helsinki, Finland.
Papers in Europe PMC - 06Andersson MA1 paper · 2023
Department of Food and Environmental Sciences, Biocenter 1, Viikinkaari 9, Helsinki University, 00014 Helsinki, Finland.
Papers in Europe PMC - 07Daschner A1 paper · 2016
Instituto de Investigación Sanitaria, Hospital Universitario de la Princesa, Servicio de Alergia , Madrid , Spain.
Papers in Europe PMC - 08Ekumi KM1 paper · 2023
Department of Pathology, Medicum, University of Helsinki, 00290 Helsinki, Finland.
Papers in Europe PMC - 09Faas J1 paper · 2022
BIOMIN Research Center, Technopark 1, 3430, Tulln a.d. Donau, Austria.
Papers in Europe PMC - 10
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). 1 trial are registered for chondrodysplasia punctata, 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.
1 interventional trial matched chondrodysplasia punctata, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: chondrodysplasia punctata
1
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 2026-07-26This 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.
"Chondrodysplasia punctata, Toriello type" OR "Toriello-Higgins-Miller syndrome"
MeSH descriptor terms unioned into the query: Chondrodysplasia Punctata Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Chondrodysplasia punctata, Toriello type" OR "Toriello-Higgins-Miller syndrome" OR "Chondrodysplasia Punctata Syndrome" OR "non-rhizomelic chondrodysplasia punctata"
Recall-expansion terms: non-rhizomelic chondrodysplasia punctata
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"chondrodysplasia punctata"
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
Ingested 2026-07-27T02:19:56.131Z