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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 280586
Chondrodysplasia with joint dislocations, gPAPP type is 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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Pulmonary capillary hemangiomatosis|
|Redundant neck skin|
|Aortic valve stenosis|
|Hyperconvex thumb nails|
|Severe global developmental delay|
|Hyperconvex vertebral body endplates|
|Decreased urinary sulfate|
|Inferior vermis hypoplasia|
|Bowing of the legs|
|Increased level of L-glutamic acid in blood|
|Delayed eruption of permanent teeth|
|Fetal akinesia sequence|
|Autosomal recessive inheritance|
|Wide nasal bridge|
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