chondrodysplasia with joint dislocations gPAPP type (DOID:0112224)
Alliance: disease page
Synonyms: gPAPP deficiency
Alt IDs: OMIM:614078, ORDO:280586
Definition: An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12.