16p12.1p12.3 triplication syndrome
Synonyms: Tetrasomy 16p12.1p12.3 | Trip(16)(p12.1p12.3)
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay pre- or post-natal growth delay and distinctive craniofacial features including short palpebral fissures epicanthal folds bulbous nose thin upper vermillion border apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease genitourinary abnormalities visual anomalies or less commonly infantile hepatic disease. Patients are also reported to have tapered fingers.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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16p12.1p12.3 triplication syndrome?
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