Синдром лицевого дисморфизма-задержки развития-поведенческих аномалий вследствие микроделеции 1p11.21p12.31

Определение

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 1p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.