multiple epiphyseal dysplasia

Basis of MED attribution

Record the clinical interpretation, its author and the observations supporting the MED label.

1. What combination of developmental epiphyseal findings and clinical history led to the MED attribution? definition
2. Who made the attribution, when, and from which examination, images and reports? provenance

Alternative explanation review

Maintain reasons for retaining or rejecting Perthes disease, pseudoachondroplasia and other plausible explanations.

1. Which findings distinguish this presentation from bilateral Perthes disease or pseudoachondroplasia? boundary
2. What additional assessment would resolve the most consequential remaining alternative? action

Distribution and morphology

Describe affected epiphyses, laterality and morphology with links to dated imaging interpretations.

1. Which epiphyses show delayed, small, irregular or flattened ossification, and at what age? measurement
2. Which apparently unaffected joints were actually imaged, and which remain unassessed? boundary

Developmental context

Retain longitudinal growth measurements and observations of patellae, hands, feet and spine.

1. How have height and body proportions changed against the stated growth reference? measurement
2. Were patellar layering, hand or foot deformities and spinal abnormalities assessed, and how does age affect their interpretation? boundary

Subtype evidence

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/)

1. What gene, variants, zygosity, phase and dated classifications support the proposed subtype? provenance
2. Does the phenotype support MED rather than another disorder associated with the same gene? boundary

Pedigree-supported interpretation

Record relatives' phenotypes and testing without assigning affected status from family relationship alone.

1. Which relatives have documented compatible skeletal findings or the relevant familial variants? provenance
2. What parental or partner information remains necessary for a genetics professional to interpret recurrence risk? action

Activity-linked joint burden

Record pain, fatigue, gait and movement limitations using comparable observations.

1. Which joints limit walking, stairs or other valued activities, and under what load or duration? measurement
2. How do pain scores, movement measurements and the person's reported limitations compare over time? measurement

Interval joint change

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/)

1. What dated evidence shows new degeneration, worsening alignment or loss of joint movement? measurement
2. Does the change fit the established course, or require assessment for an additional joint disorder? boundary

Individualised care response

Track the treating team's rehabilitation, activity-adaptation and pain-management decisions against the person's goals.

1. What plan addresses the specific painful or restricted joints, and which daily activity should improve? action
2. What change in pain, walking tolerance or movement indicates benefit or a need to revise that plan? measurement

Intervention decision basis

Record why specialist review or a proposed procedure is appropriate for the particular joint and stage of development.

1. Which documented pain, deformity or functional change prompted orthopaedic review? action
2. How do skeletal maturity, joint anatomy, prior treatment response and personal goals inform the proposed intervention? action

Check these first

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these check these first hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence? provenance

Kinds and varieties

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these kinds and varieties hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence? provenance

Identifiers and schemes

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these identifiers and schemes hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence? provenance

Real-world use

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these real-world use hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence? provenance

Failure modes and hazards

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these failure modes and hazards hold for the sense of multiple epiphyseal dysplasia this model covers, and on what evidence? provenance

Neighbouring kinds and how to tell them apart

Recalled without web access and unsourced; every item is a lead to verify.

1. 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? provenance