Autoszomális domináns
DeSanto-Shinawi syndrome is caused by loss of one working copy of WAC, usually through a variant that stops the gene working or a deletion at chromosome 10p12 that includes it. Most cases arise de novo.
Tünetek és jelek
Developmental delay and intellectual disability are typical, along with low muscle tone in infancy. Behavioural differences such as attention problems, anxiety and autism are common, as are feeding difficulties and subtle facial features such as deep-set eyes and a flat nasal bridge. Less often there are vision problems, seizures or heart defects.
Mit változtat a diagnózis
Developmental and educational support, behavioural assessment, and feeding and vision care as needed; seizures, when they occur, are treated in the usual way. Most cases arise de novo, but a parent can carry the change, sometimes in only some of their cells, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
- DeSanto-Shinawi syndrome due to WAC point mutation
