ORPHA:199642
Isolated congenital microcephaly
Clinical definition (Orphanet)
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with , , , balance disturbances, hearing loss or vision problems.
Is anyone studying this?
554
554 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.
554 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).
346 in the last 10 years · high confidence · 87.4th percentile (publications denominator)
Is a treatment being tested?
0
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). 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.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
1,434
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.
- 01Hussain MS9 papers · 2025
Cologne Center for Genomics (CCG), Institute of Biochemistry I, Medical Faculty.
Papers in Europe PMC - 02Baig SM8 papers · 2024
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Papers in Europe PMC - 03Drunat S8 papers · 2025
Department of Genetics, APHP - Hôpital Robert Debré, Paris, France
Papers in Europe PMC - 04Kaindl AM7 papers · 2023
Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Germany. Electronic address: angela.kaindl@charite.de.
Papers in Europe PMC - 05Nürnberg P7 papers · 2023
Cologne Center for Genomics (CCG), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Papers in Europe PMC - 06Passemard S7 papers · 2025
Denis Diderot Medical School, Sorbonne Paris Cité, Paris, France
Papers in Europe PMC - 07Verloes A7 papers · 2025
Denis Diderot Medical School, Sorbonne Paris Cité, Paris, France
Papers in Europe PMC - 08Asif M6 papers · 2025
Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Papers in Europe PMC - 09Aslam K6 papers · 2024
Department of Statistics, Kinnaird College for Women, Lahore, Pakistan.
Papers in Europe PMC - 10Altmüller J5 papers · 2021
Cologne Center for Genomics (CCG), Institute of Human Genetics.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
5 interventional trials matched microcephaly, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
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.
"Isolated congenital microcephaly" OR "microcephaly, primary"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated congenital microcephaly" OR "microcephaly, primary"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C0025958
Query health: ok — strategies attempted: phrase; 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