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ORPHA:1671

Split cord malformation type I

low confidenceDisorder

Also known as: Diastematomyelia · SCM type 1 · SCM type I · Split cord malformation type 1

Publications

1,714

Trials

1

Interventional, condition-specific

Researchers

992

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of split cord characterized by each hemicord contained in its own dural sac, typically with a intervening bony septum.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

SSCM · diastematomyelia · split cord malformation · split spinal cord malformation

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,714 matched papers (645 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Scoliosis; Diastomatomyelia; Generalized hirsutism) 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 trialPresent

    1 matched on ClinicalTrials.gov

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)

4

Associated phenotypes · MONDO:0009106

  • Scoliosis
  • Diastomatomyelia
  • Generalized hirsutism
  • Abnormality of the nervous system

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?

1,714

1,714 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.

1,714 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).

645 in the last 10 years · low confidence

Phrase hits: 1,714 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

992

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Gao G4 papers · 2024

    Department of Neurosurgery, 104607PLA General Hospital, Haidian District, Beijing, China.

    Papers in Europe PMC
  2. 02
    Wang J4 papers · 2026

    Institute of Spinal Deformity, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

    Papers in Europe PMC
  3. 03
    Yang J4 papers · 2022

    Department of Orthopaedic Surgery, The 1st Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  4. 04
    Mahapatra AK3 papers · 2025

    Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  5. 05
    Shang A3 papers · 2023

    Department of Neurosurgery, 104607PLA General Hospital, Haidian District, Beijing, China.

    Papers in Europe PMC
  6. 06
    Shen J3 papers · 2024

    Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China shenjianxiong@medmail.com.cn.

    Papers in Europe PMC
  7. 07
    Sun M3 papers · 2023

    Department of Neurosurgery, 104607PLA General Hospital, Haidian District, Beijing, China.

    Papers in Europe PMC
  8. 08
    Tandon V3 papers · 2020

    Department of Spine Services, Indian Spinal Injuries Centre, New Delhi, India.

    Papers in Europe PMC
  9. 09
    Tao B3 papers · 2023

    Department of Neurosurgery, 104607PLA General Hospital, Haidian District, Beijing, China.

    Papers in Europe PMC
  10. 10
    Wang H3 papers · 2023

    Department of Radiology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (4)

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 Split cord malformation type I — 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.

"Split cord malformation type I" OR "Diastematomyelia" OR "SCM type 1" OR "SCM type I" OR "Split cord malformation type 1" OR "split cord malformation" OR "split spinal cord malformation"

Run this search on Europe PMC

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

"Split cord malformation type I" OR "Diastematomyelia" OR "SCM type 1" OR "SCM type I" OR "Split cord malformation type 1" OR "split cord malformation" OR "split spinal cord malformation"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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

Synonyms dropped by stoplist: SSCM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1714) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T17:56:29.302Z