7q11.23 microduplication syndrome
Synonyms: Dup(7)(q11.23) | Trisomy 7q11.23
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 philtrum thin upper lip and facial asymmetry). Hypotonia developmental coordination disorders 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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7q11.23 microduplication syndrome?
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