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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:

  • Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
  • Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia

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