Pseudoachondroplasia [Supplementary Concept]
A hereditary autosomal dominant form of achondroplasia characterized by dwarfism, lower limb abnormalities, BRACHYDACTYLY, loose joints, and ligamentous laxity. Vertebral anomalies usually resolve with age, but affected individuals develop severe OSTEOARTHRITIS. Muations in the COMP gene have been identified. OMIM: 177170
Date introduced: August 25, 2010
MeSH Unique ID: C535819
Heading Mapped to:
Entry Terms:
- PSACH
- Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
- Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
- Pseudoachondroplastic dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia