ORPHA:1855
Spondyloenchondrodysplasia
Also known as: SPENCD · Spondyloenchondromatosis · Spondylometaphyseal dysplasia with enchondromatous changes
Publications
6,580
Trials
0
Interventional, condition-specific
Researchers
1,323
Distinct authors in sample
Gene link
ACP5
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus hemolytic anemia and thyroiditis.
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 (9)
Roifman Immunoskeletal syndrome · SPENCDI · Spondyloenchondrodysplasia with immune dysregulation · combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia · spondyloenchondrodysplasia · spondyloenchondrodysplasia with immune dysregulation · spondyloenchondromatosis · spondylometaphyseal dysplasia with combined immunodeficiency · spondylometaphyseal dysplasia with enchondromatous changes
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.
- Gene identifiedPresent
Definitive — ACP5
- LiteraturePresent
6,580 matched papers (4,661 in last 10 years) Source
- Phenotype characterisedPresent
104 HPO annotations (e.g. Spasticity; Autoimmunity; Brain imaging abnormality) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (ACP5).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
104
Associated phenotypes · MONDO:0011939
- Spasticity
- Autoimmunity
- Brain imaging abnormality
- Global developmental delay
- Lower limb pain
Showing 5 of 104 — 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?
6,580
6,580 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
6,580 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).
4,661 in the last 10 years · low confidence
Phrase hits: 368 · MeSH hits: 0
Who's working on it?
1,323
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.
- 01Crow YJ11 papers · 2025
1] Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, M13 9NT, UK [2] Paris Descartes University, Imagine Institute, 75015 Paris, France [3] INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, 75006 Paris, France.
Papers in Europe PMC - 02Goldbach-Mansky R8 papers · 2022
2 Translational Autoinflammatory Disease Studies (TADS), NIAID, NIH , Bethesda, Maryland.
Papers in Europe PMC - 03Rice GI8 papers · 2024
Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, M13 9NT, UK.
Papers in Europe PMC - 04Briggs TA7 papers · 2024
Manchester Academic Heath Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Papers in Europe PMC - 05Superti-Furga A7 papers · 2023
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 06Wang W6 papers · 2022
Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Papers in Europe PMC - 07Bader-Meunier B5 papers · 2023
Pediatric Immunology and Rheumatology Unit, Hôpital Necker, APHP, Paris, France.
Papers in Europe PMC - 08Gupta A5 papers · 2024
Department of Dermatology, Dr. D.Y. Patil Medical College, Pune, Maharashtra, 411018, India.
Papers in Europe PMC - 09
- 10Nishimura G5 papers · 2023
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
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 2026-07-29
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).
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 Spondyloenchondrodysplasia — check Associations / patient organisations on that page.
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.
("Spondyloenchondrodysplasia" OR "SPENCD" OR "Spondyloenchondromatosis" OR "Spondylometaphyseal dysplasia with enchondromatous changes" OR "Roifman Immunoskeletal syndrome" OR "SPENCDI" OR "Spondyloenchondrodysplasia with immune dysregulation" OR "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" OR "spondylometaphyseal dysplasia with combined immunodeficiency") OR ("ACP5" OR "ACP5 syndrome" OR "ACP5-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondyloenchondrodysplasia" OR "SPENCD" OR "Spondyloenchondromatosis" OR "Spondylometaphyseal dysplasia with enchondromatous changes" OR "Roifman Immunoskeletal syndrome" OR "SPENCDI" OR "Spondyloenchondrodysplasia with immune dysregulation" OR "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" OR "spondylometaphyseal dysplasia with combined immunodeficiency"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- "SPENCDI" also appears on ORPHA:50816
- "Spondyloenchondrodysplasia with immune dysregulation" also appears on ORPHA:50816
- "spondylometaphyseal dysplasia with combined immunodeficiency" also appears on ORPHA:50816
- Publication count (6580) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T18:18:55.640Z