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pseudoachondroplasia
Pathology:
- osteochondrodysplasia
Genetics:
1) autosomal dominant
2) defects in COMP gene
Clinical manifestations:
1) short stature
2) early-onset osteoarthrosis
3) more severe than multiple epiphyseal dysplasia type 1 (also resulting from defects in COMP)
4) recognized in early childhood
Laboratory:
- cartilage oligomeric matrix protein in serum
Related
cartilage oligomeric matrix protein; thrombospondin 5 (COMP, EDM1, PSACH, TSP5)
General
skeletal dysplasia
osteochondrodysplasia
Database Correlations
OMIM 177170
References
OMIM :accession 177170