7q11.23 microduplication syndrome

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.

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Aliases

• 7q11.23 duplication syndrome
• 7q11.23 microduplication syndrome
• chromosome 7Q11.23 Duplication syndrome
• chromosome 7Q11.23 triplication syndrome
• Dup(7)(q11.23)
• dup(7)(q11.23)
• Somerville-Van Der Aa syndrome
• Trisomy 7q11.23
• trisomy 7q11.23
• Wbs Duplication syndrome
• Wbs triplication syndrome
• Williams-Beuren region DUPLICATION syndrome