ORPHA:363417
Temtamy preaxial brachydactyly syndrome
Publications
51
48.5th percentile
Trials
0
Interventional, condition-specific
Researchers
327
Distinct authors in sample
Gene link
CHSY1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor and , growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.
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:0011533
- MeSH:C536958
- OMIM:605282
- UMLS:C1854466
Additional Mondo synonyms (2)
preaxial brachydactyly syndrome, TEMTAMY type · temtamy preaxial brachydactyly 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 — CHSY1
- LiteraturePresent
51 matched papers (38 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 (CHSY1).
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?
51
51 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.
51 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).
38 in the last 10 years · high confidence · 48.5th percentile (publications denominator)
Phrase hits: 51 · MeSH hits: 1
Who's working on it?
327
Distinct author names in 51 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.
- 01Mizumoto S4 papers · 2022
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 02Yamada S3 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 03Aglan M2 papers · 2021
Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 04Akiyama T2 papers · 2025
Stowers Institute for Medical Research, Kansas City, MO 64110, USA.
Papers in Europe PMC - 05Butler MG2 papers · 2023
Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd., MS 4015, Kansas City, KS 66160, USA.
Papers in Europe PMC - 06Capellini TD2 papers · 2019
Broad Institute of MIT and Harvard, Cambridge, United States.
Papers in Europe PMC - 07Izumikawa T2 papers · 2025
Faculty of Pharmaceutical Sciences, Ritsumeikan University, Shiga 525-8577, Japan.
Papers in Europe PMC - 08Kinoshita-Toyoda A2 papers · 2025
Faculty of Pharmaceutical Sciences, Ritsumeikan University, Shiga 525-8577, Japan.
Papers in Europe PMC - 09Li Y2 papers · 2024
Center for Molecular Medicine Cologne, University of Cologne, Germany.
Papers in Europe PMC - 10Linhardt RJ2 papers · 2025
Department of Chemistry and Chemical Biology, Center for Biotechnology and Interdisciplinary Studies, Rensselaer Polytechnic Institute, Troy, NY, 12180, USA. linhar@rpi.edu.
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.
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.
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.
"Temtamy preaxial brachydactyly syndrome" OR "preaxial brachydactyly syndrome, TEMTAMY type"
MeSH descriptor terms unioned into the query: Temtamy preaxial brachydactyly syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Temtamy preaxial brachydactyly syndrome" OR "preaxial brachydactyly syndrome, TEMTAMY type" OR "CHSY1"
Recall-expansion terms: CHSY1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T14:34:23.296Z