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Internal Medicine

Spondyloepiphyseal dysplasia congenita

Cover image: Warwick Davis in “Harry Potter and the Goblet of Fire” | Warner Bros | Warwick's dwarfism has been attributed to spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (SED or SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing.

  • Adult height: 0.9m/35″ to 1.4m/55″

Aetiology

COL2A1 gene mutation

  • Impaired Type II Collagen formation:
    • Required for:
      • Normal development of bones and other connective tissues
      • Found in cartilage and vitreous (eye)

Clinical features

Short-stature

  • Very short trunk and neck and shortened limbs.
  • Average-sized hands and feet
  • Characterized by a normal spinal column length relative to the femur bone.

Spinal deformities:

  • Curvature of the spine (kyphoscoliosis and lordosis)
    • Progresses during childhood and can cause problems with breathing
  • Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage.
  • Platyspondyly (flattened vertebrae)

Other deformities:

  • Coxa vara (hip joint deformity in which the upper leg bones turn inward)
  • Clubfoot (inward- and downward-turning foot)
  • Decreased joint mobility and arthritis often develop early in life.

Associated conditions:

  • Cleft palate
  • High myopia (severe nearsightedness)
  • Retinal detachment
  • Mild-to-moderate hearing loss
608px-spondyloepiphyseal_dysplasia_congenita2
A 6 1/2-year-old male with spondyloepiphyseal dysplasia congenita. Short stature, disproportionately short trunk, and kyphoscoliosis. | Konstantinos C Soultanis, Alexandros H Payatakes, Vasilios T Chouliaras, Georgios C Mandellos, Nikolaos E Pyrovolou, Fani M Pliarchopoulou and Panayotis N Soucacos – Rare causes of scoliosis and spine deformity: experience and particular features, CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=9870669

Diagnosis

Imaging

436px-spondyloepimetaphyseal-dysplasia-002
X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia | RadsWiki – CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=3415166

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