General information

DeSanto-Shinawi syndrome is a neurologic disorder caused by a disruption of the WAC gene. The WAC gene is located on chromosome 10. 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 DeSanto-Shinawi syndrome.

The patients are usually floppy at birth, have feeding difficulties and present with delays in their language and motor development. They frequently suffer from anxiety, inability to concentrate or to sit still and may have trouble getting or staying asleep. A few individuals present with a poor contact and restricted or repetitive behaviour and interests.

Some facial characteristics appear to be more common among the affected persons, including a high forehead, fusion of the eyebrows above the nose, sunken eyes, a particular form of the nose or the ears and a broad mouth.

The patients may have poor vision, respiratory problems or may suffer from constipation.

Each child of an affected individual has a 50% chance of being affected dependent on whether or not he or she inherits the disrupted (mutated) or normal copy of the gene from the affected parent. Although this scenario is theoretically possible, most patients published to date seem to present the disorder as a result of a “fresh” alteration (or “de novo” mutation) in the gene which occurred in the egg or sperm of one of the parents or in the fertilized egg.