Ring chromosome 2 syndrome

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Ring chromosome 2 syndrome

Synonyms: Ring 2 | Ring chromosome 2

Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation failure to thrive developmental delay hypotonia mild dysmorphic features (incl. microcephaly short forehead upslanting palpebral fissures hypertelorism epicanthal folds wide nasal bridge broad nasal tip long philtrum thin upper lip micrognathia short neck) skeletal anomalies (e.g. kyphosis brachydactyly clinodactyly talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia phimosis cryptorchidism).

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 October 2023.

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Ring chromosome 2 syndrome?

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