Ring chromosome 3 syndrome

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Ring chromosome 3 syndrome

Synonyms: Ring 3 | Ring chromosome 3

Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation short stature developmental delay mild to severe intellectual disability microcephaly and mild dysmorphic features (incl. triangular face dysplastic ears upslanting palpebral fissures epicanthic folds broad nasal bridge full nasal tip long philtrum downturned corners of the mouth and micro/retrognathia). Additional manifestations reported include hypotonia mild articular limitation hearing loss digital anomalies (i.e. clinodacytyly brachydactyly) café-au-lait patches and hypospadias.

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 December 2023

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Ring chromosome 3 syndrome?

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