ORPHA:658595
DNMT3A-related microcephalic dwarfism
Also known as: HESJAS · Heyn-Sproul-Jackson syndrome · Microcephaly-short stature-intellectual disability syndrome
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?
34
34 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.
34 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).
34 in the last 10 years · high confidence · 47.3th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
high confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (DNMT3A).
GenCC classification: Strong.
Who's working on it?
278
Distinct author names in 34 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Sproul D6 papers · 2026
Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 02Wilson MD5 papers · 2024
Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
Papers in Europe PMC - 03Rolls W4 papers · 2024
Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
Papers in Europe PMC - 04Wapenaar H4 papers · 2024
Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
Papers in Europe PMC - 05Zhang Y4 papers · 2024
Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
Papers in Europe PMC - 06Davidson-Smith H3 papers · 2026
Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 07Kafetzopoulos I3 papers · 2026
Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 08Kerkhof J3 papers · 2026
Verspeeten Clinical Genome Centre at London Health Sciences Centre, Ontario, Canada.
Papers in Europe PMC - 09Kumar D3 papers · 2024
Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Kings Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
Papers in Europe PMC - 10Sadikovic B3 papers · 2026
Verspeeten Clinical Genome Centre at London Health Sciences Centre, Ontario, Canada; Department of Pathology and Laboratory Medicine and Department of Pediatrics, Western University, Ontario, Canada.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
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.
"DNMT3A-related microcephalic dwarfism" OR "HESJAS" OR "Heyn-Sproul-Jackson syndrome" OR "Microcephaly-short stature-intellectual disability syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DNMT3A-related microcephalic dwarfism" OR "HESJAS" OR "Heyn-Sproul-Jackson syndrome" OR "Microcephaly-short stature-intellectual disability syndrome" OR "DNMT3A"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:618724 UMLS:C5231475
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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