The Gabriele- De Vries syndrome is a neurodevelopmental disorder caused by a disruption of the YY1 gene. The YY1 gene is located on chromosome 14. Each individual receives one copy of the gene from their biological mother and one from their biological father. When the genetic information contained in one of these two copies is significantly modified, it may lead to the symptoms of the Gabriele-De Vries syndrome.
Individuals with this syndrome may have a low birth weight and feeding problems in their neonatal period. They usually present with delays in their language and motor development. Some may experience behavioural problems such as anxiety and poor contact.
Some children may be born with congenital abnormalities such as cleft palate, abnormality of the esophagus, kidney and/or heart. In one child early closure of the head sutures has been reported. Because of the scarcity of reported/diagnosed children it is yet unclear of these congenital abnormalities are caused by this YY1 gene defect.
At present, less than 25 children have been reported with a mutation in the gene (10 individuals) or a complete deletion of one copy of the gene (13 individuals).
Some facial characteristics appear to be more common among the affected persons, including a minor facial asymmetry with a broad forehead, fullness of the upper eyelids and a minor indentation of the upper lip.