Ring chromosome 15 syndrome

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Synonyms: Ring 15 | Ring chromosome 15

A rare chromosomal anomaly syndrome with a highly variable phenotype characterized by pre- and/or postnatal growth retardation variable intellectual disability short stature dysmorphic features (microcephaly triangular facies frontal bossing hypertelorism ear anomaly broad nasal bridge highly arched palate micrognathism) hand and feet anomalies (e.g. brachydactyly clinodactyly syndactyly) and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia speech delay talipes equinovarus and genital anomalies (cryptorchidism 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 June 2024

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Ring chromosome 15 syndrome?

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