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Pediatrics

Symptoms and Early Warning Signs

At a Glance

Early signs of Multiple Epiphyseal Dysplasia (MED) appear between ages 2 and 10, including a waddling gait, activity-induced joint pain, and joints that lock or catch. This irregular joint structure often leads to early-onset osteoarthritis in adulthood.

Recognizing the early signs of Multiple Epiphyseal Dysplasia (MED) is the first step toward proactive management. Because MED affects the structural “fit” of the joints, the symptoms are often mechanical—meaning they are triggered by movement and physical stress on the bones [1].

Early Childhood Signs

Symptoms usually become noticeable between the ages of 2 and 10 [1]. Because the condition is rare, these signs are sometimes mistaken for other childhood issues.

The “Waddling” Gait

One of the most common early signs is a change in how a child walks. This is often described as a waddling gait, where the hips shift more than usual from side to side [1]. In children, parents may also notice them walking with their toes pointed significantly inward or outward to compensate for hip or knee discomfort.

Activity-Induced Pain and Fatigue

Individuals with MED often experience pain in the hips, knees, or ankles. Unlike common “growing pains,” which typically occur at night and feel like a dull muscle ache, MED pain is usually:

  • Joint-specific: Located directly in the joint rather than the large muscles of the leg [1].
  • Worsened by activity: Pain tends to increase during or immediately after physical play or exercise [2].
  • Linked to fatigue: Children may tire more quickly than their peers and ask to be carried or sit down during long walks, while adults may find their endurance for standing or walking is limited.

Mechanical Symptoms: Locking and Catching

As the irregular surfaces of the bone ends (the epiphyses) move against each other, mechanical issues can arise [3].

  • Catching: This feels like a momentary “snag” or hesitation during movement, as if the joint is bumping over a small pebble.
  • Locking: The joint (most often the knee) may get temporarily “stuck” in one position, making it difficult to fully straighten the leg [3][2]. This is often caused by the irregular shape of the joint or by small pieces of cartilage, known as loose bodies, that have detached and floated into the joint space [4].

Is it MED, Growing Pains, or Arthritis?

It can be difficult to tell MED apart from other conditions without imaging, but there are key differences:

Symptom Multiple Epiphyseal Dysplasia Growing Pains Juvenile Arthritis (JIA)
Timing During or after exercise [1] Primarily at night Often worst in the morning [5]
Swelling Rare None Common (warm, red joints) [6]
Mobility May cause limping [1] No impact on walking May cause stiffness [5]
Cause Structural/Mechanical Unknown (Muscular) Autoimmune Inflammation

Adulthood and Early-Onset Osteoarthritis

While childhood symptoms focus on gait and mechanical snags, the primary concern in adulthood is early-onset osteoarthritis [7].

Because the joints have been “mismatched” since childhood, the protective cartilage wears down faster than normal [1]. While the general population might experience osteoarthritis in their 60s or 70s, individuals with MED may begin to notice significant joint wear in their 20s, 30s, or 40s [7][8]. This progression is why long-term monitoring and joint-preserving strategies are so vital from an early age [1].

Common questions in this guide

How can I tell if my child's joint pain is MED or just growing pains?
Joint pain from Multiple Epiphyseal Dysplasia typically occurs during or right after physical activity and is located directly in the joints, like the hips or knees. In contrast, typical growing pains usually happen at night and feel like a dull ache in the muscles.
Why does the knee lock or catch in people with Multiple Epiphyseal Dysplasia?
Knee locking and catching in MED happen because the irregular surfaces of the bone ends do not glide smoothly against each other. It can also occur if small pieces of cartilage detach and float into the joint space, acting like a pebble in a hinge.
What are the earliest childhood signs of MED?
The earliest signs typically appear between ages 2 and 10. You might notice a waddling walking pattern, toes pointing sharply inward or outward, or that your child tires much more quickly than their peers during physical activities.
Does Multiple Epiphyseal Dysplasia cause early osteoarthritis?
Yes. Because the bones in the joints are mismatched from childhood, the protective cartilage wears down much faster than normal. This can lead to significant osteoarthritis starting as early as a person's 20s, 30s, or 40s.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How can we distinguish between MED joint pain and typical growing pains or other types of arthritis?
  2. 2.Is the 'catching' or 'locking' in the knee caused by loose cartilage or the shape of the bone itself?
  3. 3.What is the current range of motion in the hips and knees, and how does this compare to typical development?
  4. 4.Given the current symptoms, what specific activities should we encourage or avoid to protect the joints?
  5. 5.What signs of early-onset osteoarthritis should I be watching for as I or my child transition into adolescence and adulthood?

Questions For You

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References

References (8)
  1. 1

    Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children.

    Kizilkaya V, Engin S, Tunc A, Tonbul A

    International journal of surgery case reports 2023; (106()):108179 doi:10.1016/j.ijscr.2023.108179.

    PMID: 37062195
  2. 2

    Single-Stage Corrective Osteotomies for Multiple Angular Deformities Around the Knee Joint with Patellar Instability in a Patient with Multiple Epiphyseal Dysplasia: A Case Report.

    Song EK, Seon JK, Agrawal PR

    JBJS case connector 2015; (5(3)):e82 doi:10.2106/JBJS.CC.N.00177.

    PMID: 29252592
  3. 3

    Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies.

    Kitamura T, Yamazaki S, Kijima T, et al.

    Cureus 2024; (16(4)):e58906 doi:10.7759/cureus.58906.

    PMID: 38800255
  4. 4

    Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia.

    Koch JE, Mann G, Hetsroni I

    Arthroscopy techniques 2016; (5(2)):e229-34 doi:10.1016/j.eats.2015.11.006.

    PMID: 27354941
  5. 5

    Advances in Musculoskeletal Imaging in Juvenile Idiopathic Arthritis.

    Sudoł-Szopińska I, Herregods N, Doria AS, et al.

    Biomedicines 2022; (10(10)) doi:10.3390/biomedicines10102417.

    PMID: 36289680
  6. 6

    Conventional Radiography and Ultrasound Imaging of Rheumatic Diseases Affecting the Pediatric Population.

    Pracoń G, Aparisi Gómez MP, Simoni P, et al.

    Seminars in musculoskeletal radiology 2021; (25(1)):68-81 doi:10.1055/s-0041-1726014.

    PMID: 34020469
  7. 7

    Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic).

    Drtikolová Kaupová S, Velemínský P, Cvrček J, et al.

    International journal of paleopathology 2020; (30()):35-46 doi:10.1016/j.ijpp.2020.04.004.

    PMID: 32417673
  8. 8

    Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?

    Andrzejewski A, Péjin Z, Finidori G, et al.

    Journal of pediatric orthopedics 2021; (41(2)):e135-e140 doi:10.1097/BPO.0000000000001708.

    PMID: 33165262

This page provides educational information about the symptoms of Multiple Epiphyseal Dysplasia. Always consult a pediatric orthopedic specialist or healthcare provider for a proper medical diagnosis and to discuss joint pain.

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