This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. They later develop craniosynostosis (the premature closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete). Genoa syndrome also appears to be associated with other skeletal abnormalities, including those of the hands, and distinctive facial features. The underlying genetic cause of the condition is currently unknown. Some reports suggest that Genoa syndrome may be inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
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