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What is Pseudoachondroplasia?
“Pseudo” meaning false
Normal faces
Autosomal dominant or Autosomal recessive
Pseudoachondroplasia, with pseudo meaning "false," is a disorder that resembles but is distinct from Achondroplasia. This dwarfism was discovered in 1959 by Maroteaux and Lamy. It was originally thought that this disease was a form of spondyloepiphyseal dysplasia (disorders primarily dealing with the vertebrae and epiphyseal centers). Pseudoachondroplasia has been shown to differ from spondyloepiphyseal dysplasias in its onset and less involvement of the spine. The epiphyses and metaphyses are affected in Pseudoachondroplasia and this dysplasia is recognized as a form of short-limbed dwarfism that becomes more apparent over time and is associated with premature degenerative arthritis.