Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, also known as DeSanto-Shinawi syndrome, is a rare genetic neurodevelopmental disorder caused by heterozygous loss-of-function mutations in the WAC gene located on chromosome 10p11.23. The WAC protein plays a role in transcriptional regulation and histone modification, and its disruption leads to a recognizable pattern of clinical features affecting multiple body systems. The syndrome is characterized by mild to moderate intellectual disability, global developmental delay (particularly affecting speech and language), and distinctive facial features. Facial dysmorphism may include a broad or prominent forehead, widely spaced eyes (hypertelorism), thin upper lip, long philtrum, and low-set or posteriorly rotated ears. Behavioral abnormalities are a prominent feature and may include attention deficit hyperactivity disorder (ADHD), anxiety, autism spectrum features, and aggressive or self-injurious behaviors. Additional features can include hypotonia (low muscle tone), feeding difficulties in infancy, growth abnormalities, and minor skeletal anomalies. There is currently no specific or curative treatment for this condition. Management is supportive and multidisciplinary, focusing on early intervention services including speech therapy, occupational therapy, physical therapy, and behavioral support. Educational accommodations and behavioral management strategies are important components of care. Regular developmental and neuropsychological assessments help guide individualized treatment plans. Genetic counseling is recommended for affected families.

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