{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.multiple-epiphyseal-dysplasia","code":"thing-q1452604","url":"https://ver.cy/models/thing/q1452604/","name":"multiple epiphyseal dysplasia","alternateNames":["multiple epiphyseal dysplasia due to collagen 9 anomaly","autosomal recessive multiple epiphyseal dysplasia","multiple epiphyseal dysplasia, Beighton type","multiple epiphyseal dysplasia 5","multiple epiphyseal dysplasia 7","multiple epiphyseal dysplasia 1"],"kind":"thing","status":"published","version":"0.1.0-research.1","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"Multiple epiphyseal dysplasia is a genetically heterogeneous group of inherited skeletal disorders characterized by abnormal development of the epiphyses of long bones, often causing childhood joint pain, mild short stature and premature osteoarthritis.","purpose":"Enable an AI agent to recognise evidence for multiple epiphyseal dysplasia, track its skeletal and functional consequences, and support specialist assessment and care planning while preserving diagnostic uncertainty.","scope":{"in":["Evidence for a developmental disorder affecting multiple epiphyses","Clinical diagnostic status, molecular subtype and unresolved attribution","Age-specific skeletal distribution, growth and joint function","Longitudinal pain, deformity and secondary joint degeneration","Condition-specific care decisions and inheritance interpretation"],"out":["General skeletal anatomy and normal ossification reference models","Independent models of pseudoachondroplasia, Perthes disease and other skeletal dysplasias","Primary osteoarthritis and inflammatory arthritis unrelated to this condition","Laboratory sequencing procedures and general variant-classification standards","Detailed surgical techniques, medication prescribing and rehabilitation protocols"],"boundaries":[]},"distinguishingFeatures":["Assess whether developmental epiphyseal abnormalities involve multiple joints rather than an isolated femoral-head process; mild MED can be mistaken for bilateral Perthes disease. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)","Interpret childhood joint pain alongside growth and imaging: normal or only mildly reduced stature does not exclude MED. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)","Distinguish MED from COMP-related pseudoachondroplasia using the complete skeletal phenotype; a shared gene does not establish the same disorder. [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)","A double-layered patella supports SLC26A2-related MED but is neither universally present nor reliably retained into adulthood. [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)","Separate molecular confirmation from uncertain variants: biallelic SLC26A2 variants of uncertain significance do not establish or exclude SLC26A2-related MED. [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)"],"structure":{"bundles":[{"id":"diagnostic-identity-and-boundaries","name":"Diagnostic identity and boundaries","description":"Establish what the MED label means in this record and which competing explanations remain.","layers":[{"id":"condition-attribution","name":"Condition attribution","description":"Separate the registered condition from an individual's level of diagnostic support.","findings":[{"id":"basis-of-med-attribution","name":"Basis of MED attribution","description":"Record the clinical interpretation, its author and the observations supporting the MED label.","questions":[{"text":"What combination of developmental epiphyseal findings and clinical history led to the MED attribution?","id":"basis-of-med-attribution-q01","kind":"definition"},{"text":"Who made the attribution, when, and from which examination, images and reports?","id":"basis-of-med-attribution-q02","kind":"provenance"}]}]},{"id":"competing-skeletal-diagnoses","name":"Competing skeletal diagnoses","description":"Make the differential diagnosis and its unresolved discriminators explicit.","findings":[{"id":"alternative-explanation-review","name":"Alternative explanation review","description":"Maintain reasons for retaining or rejecting Perthes disease, pseudoachondroplasia and other plausible explanations.","questions":[{"text":"Which findings distinguish this presentation from bilateral Perthes disease or pseudoachondroplasia?","id":"alternative-explanation-review-q01","kind":"boundary"},{"text":"What additional assessment would resolve the most consequential remaining alternative?","id":"alternative-explanation-review-q02","kind":"action"}]}]}]},{"id":"epiphyseal-pattern-and-development","name":"Epiphyseal pattern and development","description":"Represent the anatomical pattern in relation to age and available imaging.","layers":[{"id":"joint-by-joint-imaging","name":"Joint-by-joint imaging","description":"Record actual epiphyseal observations separately from the extent of examination.","findings":[{"id":"distribution-and-morphology","name":"Distribution and morphology","description":"Describe affected epiphyses, laterality and morphology with links to dated imaging interpretations.","questions":[{"text":"Which epiphyses show delayed, small, irregular or flattened ossification, and at what age?","id":"distribution-and-morphology-q01","kind":"measurement"},{"text":"Which apparently unaffected joints were actually imaged, and which remain unassessed?","id":"distribution-and-morphology-q02","kind":"boundary"}]}]},{"id":"growth-and-associated-skeletal-signs","name":"Growth and associated skeletal signs","description":"Place stature, proportions and associated findings alongside the epiphyseal pattern.","findings":[{"id":"developmental-context","name":"Developmental context","description":"Retain longitudinal growth measurements and observations of patellae, hands, feet and spine.","questions":[{"text":"How have height and body proportions changed against the stated growth reference?","id":"developmental-context-q01","kind":"measurement"},{"text":"Were patellar layering, hand or foot deformities and spinal abnormalities assessed, and how does age affect their interpretation?","id":"developmental-context-q02","kind":"boundary"}]}]}]},{"id":"molecular-subtype-and-inheritance","name":"Molecular subtype and inheritance","description":"Connect subtype claims to molecular evidence and family interpretation.","layers":[{"id":"genotype-phenotype-attribution","name":"Genotype-phenotype attribution","description":"Assess whether reported variants support this skeletal phenotype and subtype.","findings":[{"id":"subtype-evidence","name":"Subtype evidence","description":"Dominant MED involves COMP, MATN3 or type IX collagen genes; preserve the exact supporting report. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)","questions":[{"text":"What gene, variants, zygosity, phase and dated classifications support the proposed subtype?","id":"subtype-evidence-q01","kind":"provenance"},{"text":"Does the phenotype support MED rather than another disorder associated with the same gene?","id":"subtype-evidence-q02","kind":"boundary"}]}]},{"id":"family-evidence-and-risk-context","name":"Family evidence and risk context","description":"Separate observed familial disease from inferred inheritance and reproductive risk.","findings":[{"id":"pedigree-supported-interpretation","name":"Pedigree-supported interpretation","description":"Record relatives' phenotypes and testing without assigning affected status from family relationship alone.","questions":[{"text":"Which relatives have documented compatible skeletal findings or the relevant familial variants?","id":"pedigree-supported-interpretation-q01","kind":"provenance"},{"text":"What parental or partner information remains necessary for a genetics professional to interpret recurrence risk?","id":"pedigree-supported-interpretation-q02","kind":"action"}]}]}]},{"id":"joint-burden-and-course","name":"Joint burden and course","description":"Track symptoms, function and structural change across the person's life.","layers":[{"id":"pain-and-functional-performance","name":"Pain and functional performance","description":"Capture joint-specific symptoms and their effect on daily movement.","findings":[{"id":"activity-linked-joint-burden","name":"Activity-linked joint burden","description":"Record pain, fatigue, gait and movement limitations using comparable observations.","questions":[{"text":"Which joints limit walking, stairs or other valued activities, and under what load or duration?","id":"activity-linked-joint-burden-q01","kind":"measurement"},{"text":"How do pain scores, movement measurements and the person's reported limitations compare over time?","id":"activity-linked-joint-burden-q02","kind":"measurement"}]}]},{"id":"structural-and-functional-progression","name":"Structural and functional progression","description":"Distinguish baseline dysplasia from subsequent degeneration or deformity.","findings":[{"id":"interval-joint-change","name":"Interval joint change","description":"Early degenerative joint disease can complicate MED; progression must be documented rather than presumed. [GeneReviews: dominant MED](https://www.ncbi.nlm.nih.gov/books/NBK1123/)","questions":[{"text":"What dated evidence shows new degeneration, worsening alignment or loss of joint movement?","id":"interval-joint-change-q01","kind":"measurement"},{"text":"Does the change fit the established course, or require assessment for an additional joint disorder?","id":"interval-joint-change-q02","kind":"boundary"}]}]}]},{"id":"care-decisions-and-review","name":"Care decisions and review","description":"Relate documented joint burden to specialist plans and measurable outcomes.","layers":[{"id":"mobility-preserving-care","name":"Mobility-preserving care","description":"Represent the rationale and response to the agreed symptom and mobility plan.","findings":[{"id":"individualised-care-response","name":"Individualised care response","description":"Track the treating team's rehabilitation, activity-adaptation and pain-management decisions against the person's goals.","questions":[{"text":"What plan addresses the specific painful or restricted joints, and which daily activity should improve?","id":"individualised-care-response-q01","kind":"action"},{"text":"What change in pain, walking tolerance or movement indicates benefit or a need to revise that plan?","id":"individualised-care-response-q02","kind":"measurement"}]}]},{"id":"orthopaedic-review-and-intervention","name":"Orthopaedic review and intervention","description":"Make escalation decisions traceable to symptoms, anatomy and prior response.","findings":[{"id":"intervention-decision-basis","name":"Intervention decision basis","description":"Record why specialist review or a proposed procedure is appropriate for the particular joint and stage of development.","questions":[{"text":"Which documented pain, deformity or functional change prompted orthopaedic review?","id":"intervention-decision-basis-q01","kind":"action"},{"text":"How do skeletal maturity, joint anatomy, prior treatment response and personal goals inform the proposed intervention?","id":"intervention-decision-basis-q02","kind":"action"}]}]}]},{"id":"evidence-and-external-alignment","name":"Evidence and external alignment","description":"What the world already says about this thing, gathered so the model can be checked against it.","layers":[{"id":"reported-evidence","name":"Reported evidence","description":"Findings from the breadth pass, kept separate from the structural claims.","findings":[{"id":"evidence-confidence-notes","name":"Check these first","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these check these first hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?","id":"evidence-confidence-notes-q01","kind":"provenance"}]},{"id":"evidence-kinds","name":"Kinds and varieties","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these kinds and varieties hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?","id":"evidence-kinds-q01","kind":"provenance"}]},{"id":"evidence-identifiers","name":"Identifiers and schemes","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these identifiers and schemes hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?","id":"evidence-identifiers-q01","kind":"provenance"}]},{"id":"evidence-real-world-use","name":"Real-world use","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these real-world use hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?","id":"evidence-real-world-use-q01","kind":"provenance"}]},{"id":"evidence-failure-modes-and-hazards","name":"Failure modes and hazards","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these failure modes and hazards hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?","id":"evidence-failure-modes-and-hazards-q01","kind":"provenance"}]},{"id":"evidence-neighbours","name":"Neighbouring kinds and how to tell them apart","description":"Recalled without web access and unsourced; every item is a lead to verify.","questions":[{"text":"Which of these neighbouring kinds and how to tell them apart hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence?","id":"evidence-neighbours-q01","kind":"provenance"}]}]}]}]},"agentConduct":{"may":["Explain multiple epiphyseal dysplasia and its management from medical and genetic sources.","Help affected people and families find specialist and support services."],"mustNot":["Diagnose the condition or interpret a genetic test result for a person instead of a clinician.","Disclose a person's diagnosis or genetic status without consent.","Advise relatives about their own genetic risk without referring them to genetic counselling.","Describe people with the condition in stigmatising or pitying terms."],"requiresHuman":["Decisions about genetic testing, family planning or surgery."]},"ethics":{"considerations":["Genetic information affects relatives who did not choose to be tested.","People with short stature or joint disability face discrimination and deserve respect."],"affectedParties":["Affected people","Families and relatives"]},"owners":{"steward":"Each person's health information is their own; clinicians and geneticists answer for diagnosis and care.","roles":[],"masterSystems":["Rare disease and genetic registries"]},"relations":[{"target":"Q200779","type":"parent","note":"registry parent class"},{"target":"Q3251367","type":"parent","note":"registry parent class"},{"target":"Q55788864","type":"parent","note":"registry parent class"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.multiple-epiphyseal-dysplasia","Wikidata: Q1452604 (https://www.wikidata.org/wiki/Q1452604)"]},"properties":{"applicability":"not-applicable","items":["Diagnostic standing: suspected; specialist clinical diagnosis; molecularly supported diagnosis; disputed; revised","Molecular subtype: COMP; MATN3; COL9A1; COL9A2; COL9A3; SLC26A2; other source-supported subtype; unresolved","Variant evidence: laboratory report, gene, transcript, variant, zygosity, phase, classification and interpretation date","Epiphyseal distribution: anatomical site and side; observed morphology; present, absent, uncertain or not assessed","Observation age: years and months at symptom onset, imaging and assessment","Growth and body proportions: height in cm; reference-specific height z-score; sitting-height-to-height ratio","Joint pain burden: named age-appropriate scale with range, joint, recall period and activity context","Joint movement and alignment: range of motion and alignment in degrees, with joint, side and measurement method","Secondary degeneration: not assessed; absent; suspected; confirmed, with joint and assessment date","Everyday mobility: walking distance in metres or duration in minutes, assistance used and limiting symptoms","Inheritance interpretation: autosomal dominant; autosomal recessive; unresolved, with supporting evidence"]},"recognition":{"applicability":"optional","items":["Not settled by sight: diagnosis relies on imaging and genetic testing.","May show as joint pain, waddling gait or mild short stature in childhood."]},"capabilities":{"applicability":"required","items":["Assemble an age-indexed phenotype and imaging summary for skeletal-dysplasia assessment.","Identify missing evidence needed to distinguish MED from competing diagnoses.","Link molecular reports to phenotype while flagging uncertain or discordant interpretations.","Compare joint-specific pain, movement and mobility across visits.","Prepare a specialist review brief when function or deformity changes.","Support genetic-counselling preparation using documented subtype and family relationships."]},"hazards":{"applicability":"required","items":["Early osteoarthritis of hips and knees.","Misdiagnosis as other childhood joint conditions."]},"interfaces":{"applicability":"required","items":["ICD-10, issued by the World Health Organization, classifies multiple epiphyseal dysplasia under Q77.3, Chondrodysplasia punctata."]},"context":{"applicability":"required","items":["Multiple epiphyseal dysplasia is encountered in clinical genetics, paediatric orthopaedics and assessments of persistent joint pain or atypical skeletal development.","The diagnosis informs evaluation of inherited skeletal differences, functional limitations and the risk of premature joint degeneration.","Clinical records may track imaging findings, molecular results and family history while distinguishing it from other causes of epiphyseal abnormalities."]}},"sources":[{"title":"Wikidata item Q1452604: multiple epiphyseal dysplasia","url":"https://www.wikidata.org/wiki/Q1452604","note":"identity and sense of the item"},{"title":"Wikipedia: Multiple epiphyseal dysplasia","url":"https://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia","note":"general description of the item"}],"openQuestions":["What operational criteria best support a clinical MED diagnosis when molecular testing remains uninformative?","How should CANT1-related MED be represented as evidence develops, given the limited clinical delineation reported in the reviewed source? [GeneReviews: SLC26A2-related MED](https://www.ncbi.nlm.nih.gov/books/NBK1306/)","Which age-specific imaging findings most reliably separate mild MED from bilateral Perthes disease and overlapping skeletal dysplasias?","Which longitudinal outcome measures and thresholds are validated for meaningful change across MED subtypes?","What evidence supports subtype-specific surveillance intervals and the timing of joint-preserving surgery?"],"resources":{"spec":"/models/things/publications/thing-q1452604/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q1452604/spec.json"],"providers":["Codex"],"researchStatus":"unreviewed","generatedAt":"2026-09-12T11:26:50Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-07T10:10:26+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}