RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:294016

Microcephaly-capillary malformation syndrome

low confidenceDisorder

Also known as: MIC-CAP syndrome · MIC-CM syndrome · Microcephaly-cutaneous capillary malformation syndrome

Publications

675

Trials

0

Interventional, condition-specific

Researchers

315

Distinct authors in sample

Gene link

STAMBP

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Microcephaly-capillary syndrome is a rare, genetic vascular anomaly characterized by severe microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable , profound global , spastic quadriparesis and hypoplastic distal phalanges.

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)

microcephaly-capillary malformation syndrome · microcephaly-cutaneous capillary malformation syndrome

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 — STAMBP

  2. LiteraturePresent

    675 matched papers (537 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Seizure; Short nose; Vesicoureteral reflux) 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 (STAMBP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

41

Associated phenotypes · MONDO:0013659

  • Seizure
  • Short nose
  • Vesicoureteral reflux
  • Hearing impairment
  • Brachydactyly

Showing 5 of 41 — 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?

675

675 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=3967) is 59.

675 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).

537 in the last 10 years · low confidence

Phrase hits: 57 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

315

Distinct author names in 57 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
    Boycott KM5 papers · 2022

    Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.

    Papers in Europe PMC
  2. 02
    Carter MT5 papers · 2022

    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada. mcarter@hollandbloorview.ca

    Papers in Europe PMC
  3. 03
    Das C4 papers · 2021

    Department of Chemistry, Purdue University , 560 Oval Drive, West Lafayette, Indiana 47907, United States.

    Papers in Europe PMC
  4. 04
    Graham JM Jr3 papers · 2022

    Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

    Papers in Europe PMC
  5. 05
    Li H3 papers · 2024

    BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.

    Papers in Europe PMC
  6. 06
    Liu Y3 papers · 2024

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  7. 07
    Paul LN3 papers · 2015

    Bindley Biosciences Center, Purdue University , West Lafayette, Indiana 47907, United States.

    Papers in Europe PMC
  8. 08
    Xu X3 papers · 2024

    Center for Translational Medicine, The Affiliated Zhangjiagang Hospital of Soochow University, 68 Jiyang West Road, Suzhou, 215600, China; Department of Ultrasound, The Affiliated Zhangjiagang Hospital of Soochow University, 68 Jiyang West Road, Suzhou, 215600, China.

    Papers in Europe PMC
  9. 09
    Davies CW2 papers · 2014

    Department of Chemistry, Purdue University , West Lafayette, Indiana 47907, United States.

    Papers in Europe PMC
  10. 10
    Deng J2 papers · 2024

    Department of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

    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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Microcephaly-capillary malformation 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.

("Microcephaly-capillary malformation syndrome" OR "MIC-CAP syndrome" OR "MIC-CM syndrome" OR "Microcephaly-cutaneous capillary malformation syndrome") OR ("STAMBP" OR "STAMBP syndrome" OR "STAMBP-related")

Run this search on Europe PMC

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

"Microcephaly-capillary malformation syndrome" OR "MIC-CAP syndrome" OR "MIC-CM syndrome" OR "Microcephaly-cutaneous capillary malformation syndrome"

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

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 (675) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:26:13.794Z