ORPHA:521445
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Clinical definition (Orphanet)
A rare genetic disease characterized by a highly variable comprising ocular anomalies ( glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears.
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?
1
1 paper have ever been indexed 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.
1 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).
1 in the last 10 years · high confidence · 9.6th 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).
Data as of 26 July 2026
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?
48
Distinct author names in 1 sampled paper — 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.
- 01Abramsky R1 paper · 2024
Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er-Sheva, Israel.
Papers in Europe PMC - 02Amir Y1 paper · 2024
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 03Banne E1 paper · 2024
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC - 04Baris Feldman H1 paper · 2024
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 05Batzir NA1 paper · 2024
Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Papers in Europe PMC - 06Bauer-Rusek S1 paper · 2024
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC - 07Ben-Yehoshua SJ1 paper · 2024
Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem, Israel.
Papers in Europe PMC - 08Chervinsky E1 paper · 2024
Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Papers in Europe PMC - 09Cohen JG1 paper · 2024
Community Genetics Department, Public Health Services, Ministry of Health, Ramat Gan, Israel.
Papers in Europe PMC - 10Cohen L1 paper · 2024
Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel.
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.
See who's working on it above — 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 below but are not added to the query string.
"Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5681443
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