DeSanto-Shinawi Syndrome

Příznaky a projevy

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.

Co se diagnózou změní

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.

Analyzované geny

Známé také jako

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome