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GTR Home > Conditions/Phenotypes > Fibrochondrogenesis 1

Fibrochondrogenesis 1

Summary

Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3. [from OMIM]

Available tests

72 tests are in the database for this condition.

Clinical tests (72 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CO11A1, COLL6, DFNA37, STL2, COL11A1
    Summary: collagen type XI alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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