Pseudoachondroplasia

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

Also Known As:

PSACH; Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Dwarfism: 1206
      - Achondroplasia: 595
        Pseudoachondroplasia: 148
    - Osteochondrodysplasias: 604
      - Achondroplasia: 595
        Pseudoachondroplasia: 148
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Dwarfism: 1206
    - Achondroplasia: 595
      - Pseudoachondroplasia: 148

Glen Gaebe Selected Research

Glen Gaebe Research Topics

Disease

Drug/Important Bio-Agent (IBA)