chondrodysplasia with joint dislocations gPAPP type

Term ID

DOID:0112224

Synonyms

• gPAPP deficiency

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. (2)

References

• GARD:11009
• MIM:614078
• ORDO:280586

Ontology

Human Disease   ( DOID:0112224 )