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last update : 16-03-2011
Symbol SMDK
Location 12q24.11
Name spondylometaphyseal dysplasia Kozlowski type
Corresponding gene TRPV4
Main clinical features
  • postnatal short stature and significant kyphoscoliosis leading to progressive deformity
  • significant scoliosis and mild metaphyseal abnormalities in the pelvis
  • short neck, pectus carinatum, and genu varus; radiographic phenotype is distinct and includes odontoid hypoplasia, platyspondyly with vertebral bodies described as resembling an “open staircase,” overfaced vertebral pedicles, short square ilia, flat acetabular roofs, wide proximal femoral epiphyseal plates, metaphyseal irregularities, and markedly delayed carpal bone ossification
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
          R594 in exon 11 is a hotspot for SMDK mutations PMID: 20577006