Achondroplasia Differential Diagnoses

Updated: May 11, 2020
  • Author: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Diagnostic Considerations

In addition to the conditions listed in the differential diagnosis, other problems to be considered include the following:

  • Achondrogenesis
  • Chondroectodermal dysplasia ( Ellis-van Creveld syndrome )
  • Metatrophic dwarfism
  • Asphyxiating thoracic dysplasia
  • Chondrodysplasia punctata (Conradi disease)
  • Pseudoachondroplastic dysplasia
  • Metaphyseal chondrodysplasia (Schmid type)

The diagnosis of achondroplasia in the fetus is made with certainty when one or both parents have this condition. In situations where the parents have normal stature, the diagnosis may only be suspected on the basis of the observation of disproportionately short limbs in the fetus upon ultrasonographic evaluation. In most cases, the specific diagnosis cannot be made with certainty until birth. Caution should be exercised in counseling the family. [20]

The diagnosis should be confirmed at birth by means of radiographic studies. The measurements, including arm span, occipital frontal circumference, body length, and ratio of upper body to lower body, should be documented.

Differential Diagnoses