ORPHA:572768
Microcephaly-micromelia syndrome
Also known as: MIMIS
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
336
79.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,116
Distinct authors in sample
Gene link
DONSON
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by severe intrauterine growth retardation, profound microcephaly, craniofacial features (such as craniosynostosis and distinctive facial appearance with short palpebral fissures, broad and beaked nose, microstomia, micrognathia, low-set ears, and short neck), and variable malformations of the limbs, especially the arms. Cardiac, gastrointestinal, and genitourinary anomalies have also been reported. Brain imaging shows gray and white matter abnormalities and hypoplastic or absent corpus callosum. The disease is commonly fatal in the fetal to period due to respiratory failure.
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:0009619
- MeSH:C565382
- OMIM:251230
- UMLS:C1855079
Additional Mondo synonyms (1)
microcephaly-micromelia 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
Strong — DONSON
- LiteraturePresent
336 matched papers (213 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 (DONSON).
GenCC classification: Strong.
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?
336
336 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.
336 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).
213 in the last 10 years · medium confidence · 79.6th percentile (publications denominator)
Phrase hits: 336 · MeSH hits: 0
Who's working on it?
1,116
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.
- 01Cohen M38 papers · 2026
Craniofacial Centre and the Division of Plastic, Reconstructive and Cosmetic Surgery, University of Illinois at Chicago, USA.
Papers in Europe PMC - 02Cohen MN13 papers · 2021
Chicago, Ill.; Irvine and Los Angeles, Calif.; Miami, Fla.; and Indianapolis, Ind. From the Division of Plastic, Reconstructive, and Cosmetic Surgery, University of Illinois and John Stroger Jr. Hospital of Cook County; The Aesthetic and Plastic Surgery Institute, University of California, Irvine; Regional Craniofacial Services Southern California, Kaiser Permanente; Division of Plastic Surgery, DeWitt Daughtry Family Department of Surgery, University of Miami School of Medicine; and Division of Plastic Surgery, Riley Hospital for Children, Indiana University.
Papers in Europe PMC - 03Patel PK8 papers · 2025
The Craniofacial Center, Department of Surgery, Division of Plastic & Reconstructive Surgery, University of Illinois Hospital & Health Sciences System; University of Illinois College of Medicine at Chicago, Chicago, IL, USA.
Papers in Europe PMC - 04Kalisch R7 papers · 2026
Leibniz Institute for Resilience Research (LIR), Mainz, Germany.
Papers in Europe PMC - 05Zhang Y6 papers · 2026
Jiangsu Key Laboratory of Pediatrics, Nanjing Medical University, Nanjing, China. zyflora2006@hotmail.com.
Papers in Europe PMC - 06Zhao L6 papers · 2025
The Craniofacial Center, University of Illinois Medical Center, Chicago, IL, USA.
Papers in Europe PMC - 07Sijbrandij M5 papers · 2025
Clinical, Neuro- and Developmental Psychology, WHO Collaborating Centre for Research and Dissemination of Psychological Interventions, Amsterdam Public Health Institute, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Papers in Europe PMC - 08Tüscher O5 papers · 2026
Leibniz Institute for Resilience Research, Wallstr. 7, 55122 Mainz, Germany.
Papers in Europe PMC - 09Witteveen AB5 papers · 2025
Clinical, Neuro- and Developmental Psychology, WHO Collaborating Centre for Research and Dissemination of Psychological Interventions, Amsterdam Public Health Institute, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Papers in Europe PMC - 10ARNOULD SYLVAIN4 papers · 2009Papers 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.
"Microcephaly-micromelia syndrome" OR "MIMIS"
MeSH descriptor terms unioned into the query: Microcephaly-Micromelia Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microcephaly-micromelia syndrome" OR "MIMIS" OR "DONSON"
Recall-expansion terms: DONSON
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (336) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T18:33:36.685Z