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ORPHA:572768

Microcephaly-micromelia syndrome

low confidenceSubtype of disorder

Also known as: MIMIS

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,364

Trials

0

Interventional, condition-specific

Researchers

1,116

Distinct authors in sample

Gene link

DONSON

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — DONSON

  2. LiteraturePresent

    1,364 matched papers (856 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Cleft palate; Craniosynostosis; Talipes equinovarus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

28

Associated phenotypes · MONDO:0009619

  • Cleft palate
  • Craniosynostosis
  • Talipes equinovarus
  • Short neck
  • Humeroradial synostosis

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,364

1,364 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,364 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

856 in the last 10 years · low confidence

Phrase hits: 336 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Cohen M38 papers · 2026

    Craniofacial Centre and the Division of Plastic, Reconstructive and Cosmetic Surgery, University of Illinois at Chicago, USA.

    Papers in Europe PMC
  2. 02
    Cohen 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
  3. 03
    Patel 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
  4. 04
    Kalisch R7 papers · 2026

    Leibniz Institute for Resilience Research (LIR), Mainz, Germany.

    Papers in Europe PMC
  5. 05
    Zhang Y6 papers · 2026

    Jiangsu Key Laboratory of Pediatrics, Nanjing Medical University, Nanjing, China. zyflora2006@hotmail.com.

    Papers in Europe PMC
  6. 06
    Zhao L6 papers · 2025

    The Craniofacial Center, University of Illinois Medical Center, Chicago, IL, USA.

    Papers in Europe PMC
  7. 07
    Sijbrandij 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
  8. 08
    Tüscher O5 papers · 2026

    Leibniz Institute for Resilience Research, Wallstr. 7, 55122 Mainz, Germany.

    Papers in Europe PMC
  9. 09
    Witteveen 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
  10. 10
    ARNOULD SYLVAIN4 papers · 2009
    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri · ctis: Error: Failed after 5 retries: https://euclinicaltrials.eu/ctis-public-api/search — TypeError: fetch failed

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Microcephaly-micromelia syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Microcephaly-Micromelia Syndrome") OR ("DONSON" OR "DONSON syndrome" OR "DONSON-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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 (1364) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T18:33:36.685Z