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A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro/retrognathia) and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.
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