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. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Chondrodysplasia with joint dislocations, gPAPP type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.