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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-12-2019
Symbol SEDMA
Location 15q26.1
Name spondyloepiphyseal dysplasia, Kimberley type
Corresponding gene ACAN
Other symbol(s) SEDK
Main clinical features
  • proportionate short stature (below the fifth centile for age), with a stocky habitus and progressive osteoarthropathy of the weight-bearing joints; radiographically, there was prominent endplate irregularity and sclerosis of the vertebral bodies, and generalized epiphyseal changes mild and variable
  • mild form with severe arthropathy including multiple epipphyseal dysplasia with macrocephaly and distinctive facies
  • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name aggrecan
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein introduction of 21 cysteine residues, followed by a premature stop codon within the CS1 domain
    Remark(s) mutation affecting the C-Type Lectin domain, associated to extreme short stature, which results from homozygosity for a missense mutation affecting the G3 domain