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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Ring chromosome 1 syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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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