Spondyloepiphyseal Dysplasia Differential Diagnoses

Updated: Dec 11, 2017
  • Author: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Diagnostic Considerations

Other problems to be considered include the following:

  • Morquio disease (see Table 1 below)
  • Chondrodysplasia punctata
  • Pseudoachondroplasia (short-limb dwarfism, hands and feet affected)
  • Perthes disease (asymmetrical stages, evidence of healing)
  • Kniest disease (characteristic facies, absent platyspondyly)
  • Metatrophic dwarfism (paper-thin vertebrae, dumbbell-shaped metaphyseal flaring, battleaxe-like pelvic configuration)

Table 1. Differential Diagnoses of Spondyloepiphyseal Dysplasia Congenita vs Morquio Disease (Open Table in a new window)

Characteristic SED Congenita Morquio Disease
Inheritance Autosomal dominant Autosomal recessive
Molecule affected Collagen type II Mucopolysaccharides
Clinical manifestation Birth End of first year
Flared ilia Absent Present
Os pubis ossification Absent Present
Acetabular angle Small Wide
Femoral neck Varus Valgus
Hands and feet affected Minimal Severe
Eye changes Myopia, retinal tears Corneal clouding
Keratosulfaturia Absent Present

Differential Diagnoses