Ring chromosome 13 syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 May 2024

Newly diagnosed with
Ring chromosome 13 syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.