Brachyolmia type 1 Toledo type BCYM1B

What is Brachyolmia type 1 Toledo type BCYM1B

This condition is a skeletal disorder which affects the spine in the body.

Synonyms

  • Spondyloepiphyseal Dysplasia Tarda, Toledo type
  • SED, Chondroitin Sulfate Type
  • PAPS- Chondroitin Sulfate Sulfotransferase Deficiency

Symptoms and Signs

Very Common Symptoms and Signs (80%-98%)

  • Abnormality of the ribs 
  • Corneal opacity 
  • Mucopolysacchariduria 
  • Platyspondyly 
  • Short stature 
  • Short thorax
  • Short neck

Common Symptoms and Signs (30%-79%)

  • Abnormality of the metaphysis
  • Kyphoscoliosis 
  • Large pelvis 
  • Micromelia

Occasional Symptoms and Signs (5%-29%)

Spinal canal stenosis