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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