ORPHA:2512
Autosomal recessive primary microcephaly
Also known as: MCPH · Microcephalia vera · Microcephaly vera · True microcephaly
Clinical definition (Orphanet)
primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
700
700 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=183) is 38.
700 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).
383 in the last 10 years · medium confidence · 88.8th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 5 trials are registered for microcephaly, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
5
trials for microcephaly, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
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).
medium confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (ASPM, CDK5RAP2, CENPE…).
GenCC classification: Definitive.
Who's working on it?
1,180
Distinct author names in 200 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.
- 01Baig SM9 papers · 2024
Shahid Mahmood Baig (PhD), Department of Biological and Biomedical Sciences, The Aga Khan University, 74000, Karachi, Pakistan. Pakistan Science Foundation, Constitution Avenue, 44000, Islamabad, Pakistan. Human Molecular Genetics Laboratory, Health Biotechnology Division, NIBGE College, PIEAS, 38000, Faisalabad, Pakistan.
Papers in Europe PMC - 02Hussain MS9 papers · 2025
Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 03Kaindl AM9 papers · 2023
Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.
Papers in Europe PMC - 04Nürnberg P7 papers · 2022
Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 05Aslam K6 papers · 2024
Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan.
Papers in Europe PMC - 06Zaqout S6 papers · 2023
Department of Basic Medical Sciences, College of Medicine, QU Health, Qatar University, Doha, Qatar.
Papers in Europe PMC - 07Anjum I5 papers · 2024
Department of Biotechnology, Kinnaird College University Lahore, Lahore, Pakistan.
Papers in Europe PMC - 08Asif M5 papers · 2025
Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Papers in Europe PMC - 09Kraemer N5 papers · 2023
Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.
Papers in Europe PMC - 10Makhdoom EUH5 papers · 2025
Ehtisham ul Haq Makhdoom (MPhil), Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan. Human Molecular Genetics Laboratory, Health Biotechnology Division, NIBGE College, PIEAS, 38000, Faisalabad, Pakistan.
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.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
None of the matched observational studies is currently listed as 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.
"Autosomal recessive primary microcephaly" OR "Microcephalia vera" OR "Microcephaly vera" OR "True microcephaly" OR "microcephaly, primary autosomal recessive" OR "microcephaly, primary, autosomal recessive"
MeSH descriptor terms unioned into the query: Autosomal Recessive Primary Microcephaly
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive primary microcephaly" OR "Microcephalia vera" OR "Microcephaly vera" OR "True microcephaly" OR "microcephaly, primary autosomal recessive" OR "microcephaly, primary, autosomal recessive" OR "ASPM" OR "CDK5RAP2" OR "CENPE" OR "KIF14" OR "STIL" OR "TEDC1" OR "autosomal genetic disease"
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): MESH:C579935 UMLS:C3711387
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MCPH
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus