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Don’t fight Char syndrome alone.
Find your community on the free RareGuru App.Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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| Menorrhagia |
| Clinodactyly of the 5th finger |
| Mesoaxial hand polydactyly |
| Short middle phalanx of the 5th finger |
5%-29% of people have these symptoms.
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An unknown % of people have these symptoms.
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