Ring chromosome 1 syndrome
Synonyms: Ring 1 | Ring chromosome 1 | r(1) syndrome
Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features most commonly including significant intrauterine and postnatal growth failure developmental delay intellectual disability microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum atrial septal defect rocker bottom feet and clinodactyly.
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
Newly diagnosed with
Ring chromosome 1 syndrome?
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Advocacy Organizations
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
For a list of clinical trials in this disease area, please click here.