ORPHA:2556
Microphthalmia with linear skin defects syndrome
Also known as: MCOPS7 · MIDAS syndrome · MLS syndrome · Microphthalmia-dermal aplasia-sclerocornea syndrome · Syndromic microphthalmia type 7
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
275
71.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,191
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, , intellectual deficit, and nail .
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.
Additional Mondo synonyms (5)
linear skin defects with multiple congenital anomalies · linear skin defects with multiple congenital anomalies type 1 · microphthalmia with linear skin defects syndrome · microphthalmia-dermal aplasia-sclerocornea syndrome · syndromic microphthalmia type 7
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
275 matched papers (133 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
275
275 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.
275 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).
133 in the last 10 years · medium confidence · 71.4th percentile (publications denominator)
Phrase hits: 275 · MeSH hits: 0
Who's working on it?
1,191
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.
- 01Kutsche K12 papers · 2020
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. kkutsche@uke.de.
Papers in Europe PMC - 02Franco B11 papers · 2026
Telethon Institute of Genetics and Medicine (TIGEM), 80078, Via Campi Flegrei 34, Pozzuoli (NA), Italy.
Papers in Europe PMC - 03Indrieri A7 papers · 2026
Telethon Institute of Genetics and Medicine, Naples, Italy.
Papers in Europe PMC - 04Ballabio A6 papers · 2006Papers in Europe PMC
- 05Morleo M6 papers · 2026
Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy.
Papers in Europe PMC - 06Gustincich S5 papers · 2026
Central RNA Laboratory, Istituto Italiano di Tecnologia, Genova, Italy.
Papers in Europe PMC - 07Zoghbi HY5 papers · 2002Papers in Europe PMC
- 08Wang Y4 papers · 2026
Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Papers in Europe PMC - 09Bon C3 papers · 2026
Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.
Papers in Europe PMC - 10Carninci P3 papers · 2024
Laboratory for Transcriptome Technology, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan. carninci@riken.jp.
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 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.
Broader category microphthalmia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: microphthalmia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Microphthalmia with linear skin defects syndrome" OR "MCOPS7" OR "MIDAS syndrome" OR "MLS syndrome" OR "Microphthalmia-dermal aplasia-sclerocornea syndrome" OR "Syndromic microphthalmia type 7" OR "linear skin defects with multiple congenital anomalies" OR "linear skin defects with multiple congenital anomalies type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microphthalmia with linear skin defects syndrome" OR "MCOPS7" OR "MIDAS syndrome" OR "MLS syndrome" OR "Microphthalmia-dermal aplasia-sclerocornea syndrome" OR "Syndromic microphthalmia type 7" OR "linear skin defects with multiple congenital anomalies" OR "linear skin defects with multiple congenital anomalies type 1" OR "syndromic microphthalmia"
Recall-expansion terms: syndromic microphthalmia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"microphthalmia"
Query health: suspect — strategies attempted: phrase, 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 (275) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T20:30:04.604Z