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Don’t fight Cerebro-facio-articular syndrome alone.
Find your community on the free RareGuru App.Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a rare condition that was first described in 1992. Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor muscle tone and joint hyperlaxity. Cerebro-facio- articular syndrome can be caused by changes (mutations) in the DCHS1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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| Spinal canal stenosis |
| Global developmental delay |
| Spasticity of pharyngeal muscles |
| Abnormal facial shape |
| Camptodactyly |
| Infantile muscular hypotonia |
| Microtia |
30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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An unknown % of people have these symptoms.
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