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.
Reference: Access aggregated data from Orphanet at Orphadata.
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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Advocacy Organizations
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
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