ORPHA:645378
Myelic limited dorsal malformation
Also known as: MyeLDM
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized.
Is anyone studying this?
8
8 papers 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.
8 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).
8 in the last 10 years · high confidence · 27.9th 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?
44
Distinct author names in 8 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.
- 01Jouannic JM3 papers · 2025
Gynécologie obstétrique, Hôpital Trousseau, APHP, Centre de Référence C-MAVEM, Sorbonne Université, Paris, France.
Papers in Europe PMC - 02de Saint-Denis T2 papers · 2025
Service de Neurochirurgie Pédiatrique, Centre de Référence Maladies Rares MAVEM, Hôpital Necker, AP-HP, Université de Paris, Paris, France.
Papers in Europe PMC - 03Dhombres F2 papers · 2025
Service de Médecine Fœtale, Centre de Référence Maladies Rares MAVEM, Hôpital Armand-Trousseau, AP-HP, Médecine Sorbonne Université, Paris, France.
Papers in Europe PMC - 04Garel C2 papers · 2021
Radiologie Pédiatrique Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
Papers in Europe PMC - 05Zerah M2 papers · 2021
Neurochirurgie Pédiatrique, Hôpital Necker, APHP, Centre de Référence C-MAVEM, Université de Paris, 149 rue de Sèvres, 75015, Paris, France. michel.zerah@aphp.fr.
Papers in Europe PMC - 06
- 07Axt-Fliedner R1 paper · 2026
Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany.
Papers in Europe PMC - 08Bedei I1 paper · 2026
Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany.
Papers in Europe PMC - 09Blondiaux E1 paper · 2021
Service de Radiopédiatrie, Hôpital Armand-Trousseau, AP-HP, Médecine Sorbonne Université, Paris, France.
Papers in Europe PMC - 10Carreras E1 paper · 2025
Maternal-Fetal Medicine Unit, Department of Obstetrics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
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.
"Myelic limited dorsal malformation" OR "MyeLDM"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Myelic limited dorsal malformation" OR "MyeLDM" OR "limited dorsal myeloschisis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5816714
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