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Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes (BCYM4)
Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes (BCYM4)
OMIM number: 612847
Comments closing date: 13/08/2025
PAPSS2-related brachyolmia is a rare genetic
condition. The condition mainly affects the spine
leading to short stature and other skeletal
problems. The bones within the spine can be
misshapen with abnormal growth plates affecting
the spinal bones. The discs between the spinal
bones may also be narrow, the ribs may also
develop abnormally and the hips may also be
affected. Wrist bones can also be short.
Review date: 2 July 2027
