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last update : 10-10-2015
Symbol SEMD4
Location 10q23.31
Name spondyloepimetaphyseal dysplasia, type 4
Other name(s) SEMD, Pakistani type
Corresponding gene PAPSS2
Main clinical features
  • short, bowed lower limbs, enlarged knee joints, kyphoscoliosis, mild generalized brachydactyly, and early-onset degenerative joint disease in the hands and knees.
  • delayed epiphyseal ossification, especially at the hips and knees, and platyspondyly.
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name 3'-phosphoadenosine 5'-phosphosulfate synthase 2
    Gene mutationChromosome rearrangementEffectComments
    nonsense     SER438TER described in a large inbred kindred in Pakistan