Ring chromosome 21 syndrome
Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features most commonly including growth retardation developmental delay intellectual disability epilepsy microcephaly short stature dysmorphic features hypogammaglobulinemia thrombocytopenia and unspecific skeletal anomalies (hemivertebrae clinodactyly syndactyly). In rare cases it has been described in phenotypically normal individuals.
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 21 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.
For a list of clinical trials in this disease area, please click here.