Ring chromosome 13 syndrome
Synonyms: Ring 13 | Ring chromosome 13
A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation developmental delay short stature moderate to severe intellectual deficit microcephaly facial dysmorphism (i.e. upslanting palpebral fissures hypertelorism abnormal ears broad nasal bridge high arched palate micrognathia small mouth and thin lips) hands and feet anomalies and genital abnormalities. Additional features reported include behavioral problems hearing and speech disorders congenital heart defects cerebral malformations and anal atresia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Ring chromosome 13 syndrome?
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Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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