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Multiple Epiphyseal Dysplasia (MED) is a genetic skeletal dysplasia primarily affecting the epiphyses (ends) of long bones, leading to joint pain, stiffness, short stature, and early-onset osteoarthritis.

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Unlike spondyloepiphyseal dysplasia (SED), the spine is typically not involved in classic forms of MED.

Classification

Type	Inheritance	Gene(s) Involved	Notes
Ribbing type (mild)	AD	COMP, COL9A1/A2, MATN3, DTDST	Classic presentation
Fairbank type (severe)	AR	SLC26A2 (DTDST)	More severe; overlaps with spondyloepimetaphyseal dysplasia

Pathophysiology

Feature	Description
Defective epiphyseal growth	Leads to irregular ossification, delayed closure, and joint incongruity
Mutation in cartilage matrix proteins	Impairs normal endochondral ossification

Clinical features

Feature	Description
Onset	Childhood to adolescence
Joint symptoms	Pain, stiffness, limited motion, especially hips and knees
Gait	Waddling or antalgic gait
Stature	Short or mildly short; normal trunk, limbs affected
Arthritis	Early osteoarthritis (hip, knee, ankle)
Spinal involvement	Absent in most dominant forms
Hands and feet	Short metacarpals/metatarsals (variable)

![Multiple epiphyseal dysplasia. (a) Clinical genu valgum. (b) Hips showing delayed ossification

Shah IP, Varghese B, Fernandes JA. Skeletal dysplasia. Paediatrics and Child Health. 2020;30(6):209-219. doi:https://doi.org/10.1016/j.paed.2020.03.004‌](https://prod-files-secure.s3.us-west-2.amazonaws.com/2aa05644-4658-4c26-84d3-64c36b55fb6c/a3979f0d-1679-4358-b9b1-27266b85f77e/image.png)

Multiple epiphyseal dysplasia. (a) Clinical genu valgum. (b) Hips showing delayed ossification

Shah IP, Varghese B, Fernandes JA. Skeletal dysplasia. Paediatrics and Child Health. 2020;30(6):209-219. doi:https://doi.org/10.1016/j.paed.2020.03.004‌

Radiology

A. Epiphyseal Changes

Metaphyses are normal (distinguishes from Pseudoachondroplasia (PsACH))

Joint	Findings
Hips	Delayed ossification, flattened and irregular femoral heads
Knees	Small or fragmented femoral condyles and tibial epiphyses
Ankles	Dysplastic or absent epiphyses
Shoulders	Delayed and irregular humeral head ossification

B. Other Bones

Site	Findings
Spine	Typically normal (helps distinguish from SED)
Metacarpals	May be shortened, delayed carpal ossification
Pelvis	Hypoplastic acetabular roofs in severe forms

![Multiple epiphyseal dysplasia. Radiographs of pelvis, knee and elbow (A-E) show epiphyseal irregularity in proximal femurs (arrow, A), around knee joints (arrow, B), elbow (arrow, C) with involvement of epiphyses of hands and feet (arrows in D, E) suggestive of multiple epiphyseal dysplasia. Radiograph of ankle (F) shows lateral tibio-talar slant. Radiograph of bilateral knees skyline view (G) and lateral view of left knee (H) show double-layered patellae (arrows).

Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 2014;6(10):808-825. doi:10.4329/wjr.v6.i10.808](https://prod-files-secure.s3.us-west-2.amazonaws.com/2aa05644-4658-4c26-84d3-64c36b55fb6c/87896b62-ba36-456f-a1ff-29f06f39bc6d/MED.jpg)

Multiple epiphyseal dysplasia. Radiographs of pelvis, knee and elbow (A-E) show epiphyseal irregularity in proximal femurs (arrow, A), around knee joints (arrow, B), elbow (arrow, C) with involvement of epiphyses of hands and feet (arrows in D, E) suggestive of multiple epiphyseal dysplasia. Radiograph of ankle (F) shows lateral tibio-talar slant. Radiograph of bilateral knees skyline view (G) and lateral view of left knee (H) show double-layered patellae (arrows).