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GENATLAS PHENOTYPE
last update : 12-07-2013
Symbol SEMDJL1
Location 1p36.33
Name spondyloepimetaphyseal dysplasia with joint laxity 1
Other name(s) SEMDJL-Beighton type
Corresponding gene B3GALT6
Main clinical features
  • vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death
  • also elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges, and facial dysmorphy with oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum
    • Genetic determination autosomal recessive
    Related entries cases mimicking Ehlers- Danlos syndrome (PMID: 23664118)
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)
  • loss of function of B3GALT6 causes a severe deficiency in GAG synthesis and results in the production of immature decorin, lacking its CS/DS side chain, as well as reduced-to-absent HS chains in dermal fibroblasts of affected individuals (PMID: 23664118))