ORPHA:656126
Segmental spinal dysgenesis
Also known as: SSD
Publications
92
55th percentile
Trials
0
Interventional, condition-specific
Researchers
368
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare complex spinal anomaly characterized by localized agenesis/dysgenesis of the spine (usually lumbar or thoracolumbar spine), kypho-scoliotic deformity (including severe kyphosis or kyphoscoliosis) and focal abnormalities of the underlying spinal cord and nerve roots. Typically, there is segmental absence or of the spinal cord characterized by normal upper spinal cord and significantly abnormal (thinned or even barely perceptible) affected cord segment without nerve roots, and a thickened, bulky distal cord. Closed spinal dysraphism may be present. Majority of the affected individuals present with neurogenic bladder (sometimes with vesicoureteral reflux), severe motor impairment (spastic paraparesis/paraplegia), reduced or absent tendon reflexes and severely hypotrophied and deformed lower limbs. In some patients clonus, , clubfoot, horseshoe kidney and bilateral hip dislocation were reported.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0958275
- UMLS:C5891176
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
92 matched papers (55 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
92
92 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=5449) is 41.
92 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
55 in the last 10 years · medium confidence · 55th percentile (publications denominator)
Phrase hits: 92 · MeSH hits: 0
Who's working on it?
368
Distinct author names in 92 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.
- 01Wang KC5 papers · 2022
Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Korea.
Papers in Europe PMC - 02Kim KH4 papers · 2022
Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Korea.
Papers in Europe PMC - 03Lee JY4 papers · 2022
Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Korea.
Papers in Europe PMC - 04Pang D3 papers · 2024
Department of Paediatric Neurosurgery, Great Ormond Street Hospital for Children, NHS Trust, London, UK.
Papers in Europe PMC - 05Ryabykh SO3 papers · 2025
Orthopedic Surgeon, N.N. Priorov National Medical Research Center of Traumatology and Orthopaedics, Kurgan, Russia.
Papers in Europe PMC - 06Savin DM3 papers · 2025
Division of Spinal Surgery, Department of Neurosurgeon, Spine Surgeon, Ilizarov Center, Kurgan, Russia.
Papers in Europe PMC - 07
- 08Capra V2 papers · 2024
Medical Genetics Unit (V.C.), IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Papers in Europe PMC - 09Chaturvedi A2 papers · 2018
Department of Pediatric Radiology, Golisano Children's Hospital, University of Rochester Medical Center, 601, Elmwood Avenue, Rochester, NY, 14642, USA.
Papers in Europe PMC - 10Chellathurai A2 papers · 2021
Department of Radiodiagnosis, Government Stanley Medical College, Chennai, Tamil Nadu, India.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 on the overview but are not added to the query string.
"Segmental spinal dysgenesis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Segmental spinal dysgenesis"
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
Synonyms dropped by stoplist: SSD
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
Ingested 2026-07-27T19:59:38.297Z