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Don’t fight CHOPS syndrome alone.
Find your community on the free RareGuru App.CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Cataract |
| Delayed eruption of permanent teeth |
| Hoarse cry |
| Hearing impairment |
| Horseshoe kidney |
| Optic atrophy |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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