Conditions / Genetic
chondrodysplasia with joint dislocations gPAPP type
info · Genetic
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
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.
Signs and symptoms
- Patellar dislocation
- Cleft palate
- Micrognathia
- Knee dislocation
- Hearing impairment
- Short foot
- Brachydactyly
- Short stature
- Narrow mouth
- Short nose
Also known as: gPAPP deficiency