Ring chromosome 5

Definition

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).

Also known as Ring chromosome type 5, rose cluster 5 — per MONDO

Also identified as

• NCIT C121984 per MONDO
• Orphanet 251043 per MONDO
• SCTID 765487008 per MONDO
• UMLS C4050064 per MONDO

Affected Organs