Spondyloepiphyseal Dysplasia Differential Diagnoses

Updated: Nov 22, 2019
  • Author: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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DDx

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