CHOPS syndrome is a rare genetic disease that affects many different parts of the body. Discovered in 2015, to date only 30 children and young adults are diagnosed worldwide.
"CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including,
C: cognitive impairment, coarse facial features,
H: heart defects,
P: pulmonary (lung) problems,
S: short stature, and skeletal abnormalities.
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