Ring chromosome 6 syndrome

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Synonyms: Ring 6 | Ring chromosome 6

Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure intellectual disability developmental delay craniofacial dysmorphism (incl. microcephaly microphthalmia epicanthus low-set and malformed ears broad and flat nasal bridge full lips micrognathia) central nervous system anomalies (e.g. hydrocephalus cortical atrophy ventriculomegaly) short neck and delayed bone age. Cardiac defects limb anomalies hip joint malformations and seizures 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 July 2024

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Ring chromosome 6 syndrome?

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