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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-02-2012
Symbol SOST2
Location 11p11.2
Name sclerosteosis-2
Corresponding gene LRP4
Main clinical features
  • facial nerve palsy,, mild frontal bossing, midface hypoplasia, dental malocclusion, and marked prognathism associated with syndactyly of fingers and toes observed at birth
  • radiographic findings included a widened and uniformly sclerotic calvarium with a very dense base, prominent vascular markings, expanded sella turcica, enlarged frontal sinuses, enlarged sclerotic mandible, widened and dense clavicles and ribs, and sclerotic vertebral endplates and pedicles
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder osteo-articular
    Type malformation
    Remark(s) . identified LRP4 mutations might be disease-causing by hindering sclerostin function as a negative bone formation regulator ( PMID: 21471202))