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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-11-2010
Symbol PSMQ2
Location 12q24.11
Name pseudo-Morquio syndrome type 2
Other name(s)
  • spondyloepiphyseal dysplasia (SED) of Maroteaux
  • parastremmatic dysplasia
  • Corresponding gene TRPV4
    Main clinical features
  • platyspondyly, but there is no tongue-like deformity of the vertebral bodies, normal Intelligence and there is no clouding of the cornea or mucopolysacchariduria; hands and feet are short and stubby
  • pelvic inlet is described as having a champagne-glass configuration, genu valgum
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type malformation