ORPHA:93360
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Also known as: SEMD-MD · SEMDJL2 · Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type · Spondyloepimetaphyseal dysplasia with joint laxity type 2 · Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
73
53.3th percentile
Trials
0
Interventional, condition-specific
Researchers
542
Distinct authors in sample
Gene link
KIF22
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Spondyloepimetaphyseal with multiple dislocations is a rare genetic primary bone disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
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.
- MONDO:0011335
- MeSH:C535784
- OMIM:603546
- UMLS:C1863732
- NCIT:C125419
Additional Mondo synonyms (4)
spondyloepimetaphyseal dysplasia with joint laxicity, Hall type · spondyloepimetaphyseal dysplasia with joint laxity type 2 · spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type · spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
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.”
2/6 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 — KIF22
- LiteraturePresent
73 matched papers (50 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?
Yes — we know a specific gene responsible (KIF22).
GenCC classification: Definitive.
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?
73
73 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.
73 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).
50 in the last 10 years · high confidence · 53.3th percentile (publications denominator)
Phrase hits: 73 · MeSH hits: 0
Who's working on it?
542
Distinct author names in 73 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.
- 01Ikegawa S3 papers · 2022
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
Papers in Europe PMC - 02Kannu P3 papers · 2026
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Papers in Europe PMC - 03Nishimura G3 papers · 2013Papers in Europe PMC
- 04Stumpff J3 papers · 2026
Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, United States.
Papers in Europe PMC - 05Superti-Furga A3 papers · 2013
Professor, Division of Genetic Medicine, University of Lausanne;, Genetica AG, Lausanne, Switzerland
Papers in Europe PMC - 06
- 07Bernardi P2 papers · 2026
Pediatrics Department of University Hospital, Federal University of Santa Catarina, Brazil.
Papers in Europe PMC - 08Bonafé L2 papers · 2013Papers in Europe PMC
- 09Cavalcanti DP2 papers · 2026
Skeletal Dysplasia Group, Medical Genetics Department, Science Medical Faculty, University of Campinas (UNICAMP), Brazil.
Papers in Europe PMC - 10Hall CM2 papers · 2007Papers 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.
high 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.
Broader category spondyloepimetaphyseal dysplasia with joint laxity also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: spondyloepimetaphyseal dysplasia with joint laxity
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" OR "SEMD-MD" OR "SEMDJL2" OR "Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" OR "Spondyloepimetaphyseal dysplasia with joint laxity type 2" OR "Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type"
MeSH descriptor terms unioned into the query: Spondyloepimetaphyseal dysplasia with multiple dislocations
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" OR "SEMD-MD" OR "SEMDJL2" OR "Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" OR "Spondyloepimetaphyseal dysplasia with joint laxity type 2" OR "Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" OR "Spondyloepimetaphyseal dysplasia with multiple dislocations" OR "KIF22"
Recall-expansion terms: KIF22
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondyloepimetaphyseal dysplasia with joint laxity"
Query health: suspect — strategies attempted: phrase, mesh, 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
Ingested 2026-07-27T04:19:00.344Z