Multiple Epiphyseal Dysplasia Clinical Presentation

Updated: Dec 13, 2021
  • Author: Ashish S Ranade, MBBS, MS, FRCS(Glasg); Chief Editor: Jeffrey D Thomson, MD  more...
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History and Physical Examination

General presentation

The autosomal dominant form of multiple epiphyseal dysplasia (MED) typically manifests late in childhood. At birth, the patient's external appearance is normal, and clinical features are seen in late childhood. The disease is not associated with visceral anomalies, and the patient's intelligence is in the normal range.

Autosomal recessive MED can be associated with anomalies that are apparent at birth. Examples of such anomalies are clubfoot, cleft palate, cystic ear swelling, and clinodactyly.

Variability in the phenotypes of MED may lead to variable presentations. Mild forms of the disease may remain undiagnosed, or they may be misdiagnosed as bilateral Perthes disease or early-onset osteoarthritis.

Patients with MED typically present with some or all the following features [19] :

  • Presentation late in childhood
  • Pain in the hips, knees, or both
  • Early fatigue after exercise
  • Gait abnormalities
  • Elbow flexion contractures
  • Angular deformities in the lower extremity - Coxa varagenu varum or valgum, valgus deformity at the distal tibia
  • Shoulder pain with restricted abduction in patients with shoulder involvement

The shoulder joint becomes symptomatic in the fifth decade of life.

In rare cases, clubfeet, radial-ray deficiency, or scoliosis may be observed. [20, 21]

Height and weight

The height of patients with MED is normal or slightly less than normal. Their adult height is 145-170 cm. [22, 6] Motor development is normal. Patients with MED can be abnormally heavy for their height. In addition, they can have generalized muscle weakness and chronic musculoskeletal pain. [23]

Lower-extremity findings

Angular deformities are often seen in the lower extremity. Flexion contractures of the knee can also be seen. Osteochondritis dissecans may be present, especially in the knee joint. The patella may develop chronic subluxation or dislocation, and patients may have associated clicking and pain. Double-layered patellae (ie, the radiographic appearance of a patella with multiple layers) may be associated with subluxation or dislocation of the radial head and with a foot deformity. [24]

Bilateral involvement of the hip joints is seen in MED. Unilateral changes in one hip joint is a feature of conditions other than MED.

Upper-extremity findings

The upper extremities are less involved in MED than the lower extremities are. MED can involve the shoulder, elbow, or wrist, but these structures are often asymptomatic. Clinical findings in the upper extremity include cubitus valgus and elbow flexion contracture. [7]

Spinal findings

By definition, the spine is normal in MED. However, scoliosis has been reported. [21, 7] For example, a 22º left thoracolumbar curve was measured in a patient at the age of 13 months. The curve progressed to 53º at 6 years of age. The patient also had a right thoracic curve, which remained stable at 41º. An associated finding was thoracolumbar kyphosis. Bracing was ineffective in controlling the curve.