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A rare chromosomal anomaly syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.
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