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ORPHA:424099

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

medium confidenceDisorder

Also known as: Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Publications

497

77.6th percentile

Trials

0

Interventional, condition-specific

Researchers

47

Distinct authors in sample

Gene link

MAB21L2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Colobomatous microphthalmia-rhizomelic syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. with autistic features, macrocephaly, features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

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 (2)

microphthalmia, syndromic type 14 · microphthalmia-coloboma-rhizomelic skeletal dysplasia

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

    Definitive — MAB21L2

  2. LiteraturePresent

    497 matched papers (329 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Moderate intellectual disability; Microcornea; Hypospadias) 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 (MAB21L2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0014380

  • Moderate intellectual disability
  • Microcornea
  • Hypospadias
  • 3-4 finger cutaneous syndactyly
  • Epicanthus

Showing 5 of 24 — 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?

497

497 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=3967) is 59.

497 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).

329 in the last 10 years · medium confidence · 77.6th percentile (publications denominator)

Phrase hits: 9 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

47

Distinct author names in 9 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
    Grouin C2 papers · 2015

    LIMSI-CNRS, Orsay, France. Electronic address: cyril.grouin@limsi.fr.

    Papers in Europe PMC
  2. 02
    Zweigenbaum P2 papers · 2015

    LIMSI-CNRS, Orsay, France.

    Papers in Europe PMC
  3. 03
    Aragona P1 paper · 2011
    Papers in Europe PMC
  4. 04
    Artioli E1 paper · 2024

    1st Orthopaedics and Traumatologic Clinic, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.

    Papers in Europe PMC
  5. 05
    Brizola E1 paper · 2024

    Department Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Chen M1 paper · 2024

    Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis; Guangdong Provincial Key Laboratory of Major Obstetric Diseases; Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology; Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory of Maternal-Fetal Medicine; The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510000, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Cline JM1 paper · 2014

    Medical University of South Carolina Medical School, Charleston, South Carolina, USA.

    Papers in Europe PMC
  8. 08
    Dansky LV1 paper · 1991

    Neurogenetics Unit, Montreal Neurological Institute, P.Q., Canada.

    Papers in Europe PMC
  9. 09
    Di Cecco A1 paper · 2024

    Department Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Faldini C1 paper · 2024

    1st Orthopaedics and Traumatologic Clinic, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.

    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.

medium 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.

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.

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

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 Colobomatous microphthalmia-rhizomelic dysplasia 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.

("Colobomatous microphthalmia-rhizomelic dysplasia syndrome" OR "Microphthalmia-coloboma-rhizomelic skeletal dysplasia" OR "microphthalmia, syndromic type 14") OR ("MAB21L2" OR "MAB21L2 syndrome" OR "MAB21L2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Colobomatous microphthalmia-rhizomelic dysplasia syndrome" OR "Microphthalmia-coloboma-rhizomelic skeletal dysplasia" OR "microphthalmia, syndromic type 14"

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

Parent-category trials query:

"microphthalmia"

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
  • Publication count (497) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T15:57:01.383Z