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 April 2024
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Ring chromosome 13 syndrome?
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Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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