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GTR Home > Conditions/Phenotypes > Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Summary

Patients with short sature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis, as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (summary by Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away. [from OMIM]

Available tests

2 tests are in the database for this condition.

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Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD, ACAN
    Summary: aggrecan

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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