7q11.23 microduplication syndrome
MONDO:0012342
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, behavioral 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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7q11.23 duplication syndrome
7q11.23 duplication syndrome (also called dup7 or 7dup) is a rare genetic syndrome caused by an extra copy of a segment of approximately 1.5 to 1.8 megabases on the long arm (q) of chromosome 7, in a region known as the Williams-Beuren syndrome critical region (WBSCR). The syndrome was first reported in 2005. It is characterized by neurological, behavioral, and other medical features that vary in severity. Common features include speech and language delays (including childhood apraxia of speech), hypotonia, anxiety disorders, selective mutism, attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder, autism spectrum disorder, intellectual disability, and dilation of the ascending aorta. The diagnosis is established by chromosomal microarray analysis detecting the duplication. There is no cure; treatment involves speech and language therapy, behavioral interventions, and management of medical complications such as aortic dilation and seizures. The prevalence is estimated at 1 in 7,500 to 1 in 20,000 people, though the syndrome is considered underdiagnosed.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.