Which syndrome on chromosome 22 is autosomal dominant and features facial anomalies, cleft palate, cardiac defects, and severe intellectual disability with psychiatric comorbidity?

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Velocardiofacial syndrome, also known as 22q11.2 deletion syndrome, fits this pattern. It results from a microdeletion on chromosome 22 and is inherited in an autosomal dominant way, though many cases occur de novo. The syndrome presents with facial anomalies, cleft palate or velopharyngeal insufficiency, and congenital heart defects (often conotruncal types like tetralogy of Fallot or truncus arteriosus). Intellectual disability can be significant, and psychiatric problems are common later in life, including anxiety, ADHD, and increased risk for other psychiatric conditions. This combination of features on chromosome 22 aligns with Velocardiofacial syndrome.

Down syndrome is due to trisomy 21 and has distinct facial features and heart defects but not the 22q11.2 deletion pattern. Rett syndrome is X-linked MECP2-related and affects females with regression in development. Prader-Willi syndrome involves 15q11-13 abnormalities and presents with hypotonia, obesity, and hypogonadism, not a 22q11.2 deletion.