pseudoachondroplasia

Pathology

• osteochondrodysplasia

Genetics

• autosomal dominant
• defects in COMP gene

Clinical manifestations

• short stature
• early-onset osteoarthrosis
• more severe than multiple epiphyseal dysplasia type 1 (also resulting from defects in COMP)
• recognized in early childhood

Laboratory

• cartilage oligomeric matrix protein in serum

More general terms

• skeletal dysplasia
• osteochondrodysplasia

Additional terms

• cartilage oligomeric matrix protein; thrombospondin 5 (COMP, EDM1, PSACH, TSP5)

Database

• OMIM: https://mirror.omim.org/entry/177170