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Opitz-Kaveggia syndrome/FG syndrome
What are the symptoms?
The main signs and symptoms of Opitz-Kaveggia/FG affect male infants and include hypotonia (reduced muscle tone) with global developmental delay and subsequent learning disability; imperforate or narrowed anus (skin covered or blocked bottom) or severe constipation; high prominent forehead with larger than average head circumference and somewhat widened and flattened appearing thumbs and great toes. Brain scan may show a lesion called agenesis of the corpus callosum that is not in itself harmful. As the imperforate anus is not present in each case and constipation is a non-specific sign, Opitz-Kaveggia/FG can be hard to diagnose and it may therefore have gone unrecognised in the past.
As mentioned above, the clinical features of FG syndrome can vary in different affected individuals and can include:
Background
| What are the causes? 
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