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Start free with EleplanMultiple epiphyseal dysplasia type 4
ORPHA:93307Disease
Also called Autosomal recessive multiple epiphyseal dysplasia · EDM4 · MED4 · Polyepiphyseal dysplasia type 4 · rMED
What it is
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Europe)Multiple epiphyseal dysplasia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
21- Accelerated skeletal maturation
- Acetabular dysplasia
- Arthralgia of the hip
- Bilateral talipes equinovarus
- Brachydactyly
- Coxa vara
- Disproportionate short stature
- Double-layered patella
- Elbow flexion contracture
- Flattened epiphysis
- Flattened femoral epiphysis
- Flexion contracture
- Genu valgum
- Joint stiffness
- Limitation of joint mobility
- Micrognathia
- Moderately short stature
- Premature osteoarthritis
- Talipes equinovarus
- Upper limb undergrowth
- Waddling gait
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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