Chondrodysplasia with joint dislocations, gPAPP type

Disease Export to PDF
Name:
Chondrodysplasia with joint dislocations, gPAPP type
Description:
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.
ORPHAcode:
280586
Synonyms:
gPAPP deficiency
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14