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GENATLAS PHENOTYPE
last update : 11-07-2015
Symbol SOST
Location 17q12-q21
Name sclerosing bone dysplasia, progressive, sclerosteosis
Other name(s) cortical hyperostosis with syndactyly
Corresponding gene SOST
Main clinical features
  • osteosclerosis and hyperostosis affecting mainly the skull and mandible with facial paralysis, deafness and syndactyly onset in early childhood, may be allelic to Van Buchem disease (HVB), sclerosis
  • associated with increased bone strength (PMID: 24753092))
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    ear
    Type disease
    Gene product
    Name sclerostin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function sclerosing bone dysplasia characterized by skeletal overgrowth
    Remark(s)
  • altered bone composition contributes likely to the increased bone strength of patients with sclerostin deficiency (PMID: 24753092))