Ring chromosome 5 syndrome
Synonyms: Ring 5 | Ring chromosome 5
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome with high phenotypic variability principally characterized by a neonatal mewing cry severe developmental delay and intellectual disability short stature hypotonia dysmorphic features (incl. microcephaly facial asymmetry hypertelorism epicanthal folds abnormal ears micro/retrognathia) congenital cardiac anomalies (such as atrial and ventricular septal defect tricuspid insufficiency hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs anomalous ulna/radius dysplastic metacarpals and phalanges).
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 December 2023
Newly diagnosed with
Ring chromosome 5 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.