Ring chromosome 5 syndrome

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Synonyms: Ring 5 | Ring chromosome 5

Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome with high phenotypic variability principally characterized by a neonatal mewing cry severe developmental delay and intellectual disability short stature hypotonia dysmorphic features (incl. microcephaly facial asymmetry hypertelorism epicanthal folds abnormal ears micro/retrognathia) congenital cardiac anomalies (such as atrial and ventricular septal defect tricuspid insufficiency hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs anomalous ulna/radius dysplastic metacarpals and phalanges).

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 July 2024

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Ring chromosome 5 syndrome?

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