Ring chromosome 16 syndrome

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Synonyms: Ring 16 | Ring chromosome 16

A rare chromosomal anomaly syndrome resulting from the partial deletion of chromosome 16 characterized by pre- and postnatal growth delay severe developmental delay intellectual disability speech delay and craniofacial dysmorphism (e.g. microcephaly hypertelorism downslanted palpebral fissures ptosis telecantus low set and dysmorphic ears broad flat nasal bridge down-turned mouth corners high palate retrognathia). Patients may also present congenital cataract mild synophrys hypotonia and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect patent ductus arteriosus) have also 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 May 2024

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Ring chromosome 16 syndrome?

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