Chondrodysplasia with joint dislocations, gPAPP type

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Chondrodysplasia with joint dislocations, gPAPP type

Synonyms: gPAPP deficiency

A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature shortening of the limbs congenital joint dislocations micrognathia posterior cleft palate brachydactyly short metacarpals and irregular size of the metacarpal epiphyses supernumerary carpal ossification centers and dysmorphic facial features. In addition hearing impairment and mild psychomotor delay have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. Ā© INSERM 1999. Available on Data version December 2023

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Chondrodysplasia with joint dislocations, gPAPP type?

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