16p12.1p12.3 triplication syndrome

16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication 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.

Also known as: tetrasomy 16p12.1-p12.3, tetrasomy 16p12.1p12.3, trip(16)(p12.1p12.3)

0 clinical trials for this condition and its sub-types, 0 tagged with 16p12.1p12.3 triplication syndrome itself.